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Gene: Atp6v1h MGI:1914864

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Gene Summary

Name:
ATPase, H+ transporting, lysosomal V1 subunit H
Synonyms:
0710001F19Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to organogenesis Atp6v1hem1(IMPC)Bay HOM   E9.5 0.00
preweaning lethality, complete penetrance Atp6v1hem1(IMPC)Bay HOM   Early adult 0.00
abnormal retina vasculature morphology Atp6v1hem1(IMPC)Bay HET Early adult 4.90×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Eye Morphology

VIP of right fundus

15 Images

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Human diseases caused by Atp6v1h mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atp6v1h by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia OMIM:619073
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia,... OMIM:193100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentr... ORPHA:89937
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Osteoporosis
Osteoporosis OMIM:166710
Osteosclerotic Metaphyseal Dysplasia
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul... OMIM:615198
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612287
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Isolated Glycerol Kinase Deficiency
Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:408
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout OMIM:610947
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612286
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:600081
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... ORPHA:398063
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased circulating beta-C-terminal... ORPHA:157215
Idiopathic Hypercalciuria
Abnormal circulating calcium concentration, Osteopenia, Osteoporosis ORPHA:2197
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Winchester Syndrome
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis OMIM:277950
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Hypocalcemia, Reduced bone mineral density ORPHA:172
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnorma... ORPHA:93160
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Elevated circulating alkaline phosphatase concentration, Hypokalemia, Hypo... OMIM:134600
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... ORPHA:329475
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n... OMIM:619256
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Elevated circu... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:264700
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho... OMIM:615923
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Osteolysis, Thin bo... OMIM:174810
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hypouricemia, Rickets, Elevated circulating alkaline phosphatase c... OMIM:616026
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Hypophosphatemia ORPHA:2611
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Bile Acid Conjugation Defect 1
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... OMIM:619232
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ... ORPHA:289157
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia OMIM:613388
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:277440
Infantile Myofibromatosis
Bone cyst, Osteolysis, Hypercalcemia, Limitation of joint mobility ORPHA:2591
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Hypophosphatasia, Childhood
Elevated plasma pyrophosphate, Low alkaline phosphatase, Craniosynostosis OMIM:241510
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Elevated circulating alkali... OMIM:156400
Hypophosphatasia
Anemia, Recurrent fractures, Hypercalcemia, Craniosynostosis ORPHA:436
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Elevated circulating alkal... ORPHA:352540
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:2088
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Elevated circulating aspartate aminotransferase concentration, Intrah... OMIM:227810
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susceptibility to... OMIM:146300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... OMIM:600785
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Low alkaline phosphatase, Increas... OMIM:241500
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Splenomegaly, Jaundice, Osteoporosis ORPHA:79301
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hyperlipidemia, Osteoporosis, Elevated hepatic transaminase ORPHA:369
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis, Recurrent frac... OMIM:126550
Juvenile Paget Disease
Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabec... ORPHA:2801
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat... OMIM:615422
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Osteoporosis OMIM:601979
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... ORPHA:668
Indolent Systemic Mastocytosis
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Elevated total serum trypta... ORPHA:98848
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin... OMIM:606631
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Increased circulating lactate dehydrogenase con... ORPHA:232
Cystinosis
Hypokalemia, Rickets, Portal hypertension, Hypophosphatemia ORPHA:213
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis OMIM:616033
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Elevated circulating creatine kinase concentration, Elbow flexion co... OMIM:616809
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi... ORPHA:249
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:300555
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Prieto Syndrome
Osteoporosis OMIM:309610
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Pancytopenia, Osteomyelitis, Increased circulating lactate dehydr... OMIM:259700
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Multiple Myeloma
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... ORPHA:29073
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis ORPHA:529665
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... OMIM:239000
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:614880
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Red... OMIM:619795
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... OMIM:259450
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia OMIM:612462
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia, Absent leukocyte alkaline phosphatase OMIM:242880
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Osteopenia OMIM:615266
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration OMIM:607748
Short Stature, Dauber-Argente Type
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Perrault Syndrome 1
Osteoporosis OMIM:233400
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Osteoporosis ORPHA:319195
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... ORPHA:199299
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Hemochromatosis, Type 1
Elevated hepatic transaminase, Splenomegaly, Increased circulating ferritin concentration, Osteop... OMIM:235200
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification OMIM:103580
Blue Diaper Syndrome
Elevated hepatic transaminase, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... OMIM:245480
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Rickets of the lower limbs ORPHA:882
Niemann-Pick Disease, Type A
Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cells, Microcytic... OMIM:257200
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration OMIM:613312
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating alanine aminotransferas... OMIM:615381
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Hepatitis, Polyo... ORPHA:562
Sialidosis Type 2
Splenomegaly, Flexion contracture, Osteoporosis ORPHA:87876
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... OMIM:277700
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Hypercalcemia, Craniosynostosis, Increased blood urea nitrogen, Episodic hem... ORPHA:251004
Bruck Syndrome
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:2771
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Paget disease of bone, Elevated alkaline phosphatase of bone origin, Elevated circulating creatin... OMIM:167320
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Elevated creatine kinase after exercise, Abnormal lactate dehydrog... ORPHA:284426
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... ORPHA:52430
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures ORPHA:2788
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis OMIM:613849
Classic Galactosemia
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Abnormal er... ORPHA:79239
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycinemia, Neutropenia, Propi... OMIM:606054
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Hall-Riggs Syndrome
Osteoporosis OMIM:234250
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... ORPHA:1652
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Menkes Disease
Joint laxity, Decreased circulating ceruloplasmin concentration, Osteoporosis OMIM:309400
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia OMIM:266510
Dietary Iron Overload Disease
Viral hepatitis, Increased circulating ferritin concentration, Elevated transferrin saturation, O... ORPHA:139507
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly,... OMIM:607765
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia OMIM:211900
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... ORPHA:2583
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Reduced bone mineral density OMIM:618392
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Congenital Disorder Of Glycosylation, Type Iiy
Reduced bone mineral density OMIM:620200
Cranioectodermal Dysplasia
Joint hyperflexibility, Osteoporosis, Craniosynostosis ORPHA:1515
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Splen... OMIM:211600
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Fibrodysplasia Ossificans Progressiva
Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif... OMIM:135100
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste... ORPHA:2848
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... ORPHA:94089
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones ORPHA:93351
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Anemia ORPHA:296
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... ORPHA:3409
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness ORPHA:66627
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon... ORPHA:73
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Infantile Nephropathic Cystinosis
Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Low alkaline phosphatase, Decr... ORPHA:369837
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ... OMIM:208230
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, Os... ORPHA:186
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Elevated total serum tryptase, Increased ... ORPHA:94059
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density ORPHA:2501
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... ORPHA:261476
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Joint stiffness, Splenomegaly, Increased circulating ferritin concentration,... ORPHA:465508
Cystic Echinococcosis
Elevated hepatic transaminase, Abscess, Eosinophilia, Jaundice, Bone cyst, Elevated circulating a... ORPHA:400
Raine Syndrome
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Subperio... OMIM:259775
Congenital Disorder Of Glycosylation, Type Ir
Osteopenia, Decreased liver function OMIM:614507
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... ORPHA:3337
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, ... OMIM:212750
Immunodeficiency 12
Complete or near-complete absence of specific antibody response to tetanus vaccine, Absent isohem... OMIM:615468
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... ORPHA:785
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:214150
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Elevated ci... OMIM:610968
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... ORPHA:2169
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Mucolipidosis Type Iii
Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density ORPHA:577
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Reduced bone m... ORPHA:848
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, Hypermethioninemia, Generalized ... OMIM:236200
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis OMIM:615830
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hyp... OMIM:601678
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leu... OMIM:620210
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99880
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating creatine ki... OMIM:613327
Parathyroid Carcinoma
Osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:143
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaund... OMIM:214900
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Elevated circulating creatine kinase concentration, Shoulder flexion contracture... OMIM:255800
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Spondylo-Ocular Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:85194
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Decreased skull ossification, Hypocalcemia OMIM:602361
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... ORPHA:79240
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... ORPHA:371428
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Elbow flexion contracture, Hypocalcemia OMIM:618440
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration, Increased total bilirubin OMIM:174050
Rhyns Syndrome
Osteopenia, Osteoporosis OMIM:602152
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc... ORPHA:470
Geroderma Osteodysplastica
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification ORPHA:2078
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c... OMIM:278000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hypertrigly... ORPHA:264580
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Craniometadiaphyseal Dysplasia
Osteopenia, Wide anterior fontanel, Sclerosis of skull base, Elevated circulating alkaline phosph... OMIM:269300
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures OMIM:616833
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis ORPHA:199354
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... OMIM:259720
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility ORPHA:99742
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis OMIM:219080
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ... OMIM:259420
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Abnormal circu... ORPHA:263455
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... OMIM:259100
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis OMIM:610475
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali... OMIM:616828
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... ORPHA:93284
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypou... OMIM:277900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:617093
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility OMIM:184260
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decre... ORPHA:93325
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Hypocalcemic ... OMIM:612301
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Hepatitis, Anemia, Arthritis, Agammaglobuli... ORPHA:47
Nasu-Hakola Disease
Bone cyst, Acute leukemia, Limitation of joint mobility, Reduced bone mineral density ORPHA:2770
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... OMIM:615424
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... ORPHA:99845
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia OMIM:232200
Congenital Myopathy 22A, Classic
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture... OMIM:620351
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Reduced bone mineral density ORPHA:1414
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Osteoporosis OMIM:616200
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, N... OMIM:232220
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Perrault Syndrome 4
Osteoporosis OMIM:615300
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal circulating C-reactive protein concentration, Limitation of joint mobility, Abnormality ... ORPHA:1159
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... OMIM:613989
Cantu Syndrome
Osteoporosis OMIM:239850
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Osteoporosis OMIM:219090
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi... OMIM:618000
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79444
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Osteoporosis OMIM:615851
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... OMIM:231070
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Lathosterolosis
Elevated hepatic transaminase, Increased mean platelet volume, Acanthocytosis, Intrahepatic chole... OMIM:607330
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis OMIM:619718
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density OMIM:616507
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophospha... ORPHA:469
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Lysinuric Protein Intolerance
Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Thrombocytopeni... OMIM:222700
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase OMIM:618879
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae OMIM:156510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Desbuquois Dysplasia 1
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... OMIM:251450
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Splenomegaly, Jaundice, Intrahepatic cholestasis, Elevated circula... OMIM:235555
Cystinosis, Nephropathic
Hyponatremia, Splenomegaly, Rickets, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, ... OMIM:219800
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia OMIM:612526
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder OMIM:254700
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Portal hypertension, Osteoporosis, Hepatosplenom... OMIM:619487
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... OMIM:605814
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... ORPHA:79443
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,... ORPHA:171
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr... ORPHA:411634
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Osteoporosis OMIM:610489
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ... OMIM:619484
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating antibody level, Reduced proportion of CD4+... ORPHA:90362
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto... OMIM:613990
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... ORPHA:85188
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture OMIM:614438
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... ORPHA:2796
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Lowry-Maclean Syndrome
Osteopenia, Osteoporosis, Craniosynostosis ORPHA:2409
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Osteoporosis, Lambdoidal craniosynostosis OMIM:615398
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Aromatase Deficiency
Osteopenia, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis ORPHA:91
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Osteoporosis OMIM:617190
Cerebrotendinous Xanthomatosis
Abnormal circulating cholesterol concentration, Osteoporosis OMIM:213700
Graft Versus Host Disease
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:619662
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density... ORPHA:94068
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu... ORPHA:263501
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Abnormal cir... ORPHA:95159
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein concent... OMIM:612852
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Pancytopenia, Portal hypertension, Bone marrow hypocellularity, Abnormally low T cell... OMIM:617341
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:615363
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... OMIM:127550
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr... ORPHA:94093
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, S... ORPHA:699
Functioning Gonadotropic Adenoma
Osteopenia, Osteoporosis ORPHA:91348
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Pancytopenia, Elevated circulating creatine kinase concentration, ... OMIM:614576
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocyto... ORPHA:77293
Mucopolysaccharidosis, Type Ivb
Joint laxity, Decreased beta-galactosidase activity, Osteoporosis, Joint stiffness OMIM:253010
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Elevated hepatic transaminase, Portal hypertension, Ricke... OMIM:613658
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Anemia, Joint hy... ORPHA:534
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly ORPHA:432
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Joint stiffness, Flexion contracture, Reduced bone mineral density, Abnormal circulating lipid co... ORPHA:1979
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Elevated hepatic transaminase, Multiple joint contractures, Microcytic anemia, T lymp... ORPHA:2959
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Osteoporosis ORPHA:2326
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification OMIM:226980
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Knee flexion contracture, Decreased circulating total IgM, Sclerosis of skull ... OMIM:618162
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... ORPHA:95409
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density OMIM:620232
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Abnormal circulating enzyme concentration or activity, Distal joint laxity, Generaliz... ORPHA:1900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Bone marrow hypocellular... OMIM:612199
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Epiphyseal stippling, Hyperphosphatemia, Neonatal epiphyseal stippling OMIM:101800
Macs Syndrome
Joint laxity, Osteoporosis, Joint hypermobility OMIM:613075
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Wid... OMIM:614866
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin conce... ORPHA:79277
Hyperparathyroidism, Transient Neonatal
Osteopenia, Recurrent fractures, Subperiosteal bone formation, Elevated circulating alkaline phos... OMIM:618188
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:605479
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Glycerol Kinase Deficiency
Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia OMIM:307030
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... ORPHA:2614
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Eiken Syndrome
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Delayed tarsal ossificatio... OMIM:600002
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulating creatinine c... OMIM:613095
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility ORPHA:363705
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Chronic ... ORPHA:79259
X Small Rings
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:96201
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:168558
Cinca Syndrome
Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:1451
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrahepatic cholest... OMIM:613812
Cleidocranial Dysplasia
Spina bifida occulta, Decreased skull ossification, Osteoporosis, Recurrent fractures ORPHA:1452
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Mucopolysaccharidosis, Type Iva
Joint laxity, Osteoporosis OMIM:253000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol... ORPHA:289548
Sarcoidosis
Hemolytic anemia, Hypercalcemia, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T... ORPHA:797
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Ele... OMIM:601847
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocyto... ORPHA:37042
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated circulating ... ORPHA:36234
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:137608
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Reduced bone mineral density ORPHA:2983
Osteopetrosis With Renal Tubular Acidosis
Abnormal circulating enzyme concentration or activity, Pancytopenia, Elevated circulating creatin... ORPHA:2785
Occipital Horn Syndrome
Joint laxity, Decreased circulating ceruloplasmin concentration, Decreased circulating copper con... OMIM:304150
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Adrenomyodystrophy
Reduced bone mineral density ORPHA:977
Post-Traumatic Pituitary Deficiency
Osteopenia, Osteoporosis of vertebrae ORPHA:95619
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level OMIM:619356
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bon... ORPHA:86822
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Splenomegaly, Elevated circulating alkaline phosphatase concentrat... OMIM:613489
Adult-Onset Still Disease
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:829
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Osteolysis, Hypercalcemia, Reduced bone mineral density ORPHA:652
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Osteoporosis, Elbow flexi... OMIM:245600
Spinocerebellar Ataxia-Dysmorphism Syndrome
Joint hyperflexibility, Spina bifida occulta, Reduced bone mineral density ORPHA:1185
Cantú Syndrome
Osteoporosis ORPHA:1517
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis OMIM:300998
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Hypochromic anemia OMIM:606893
Classic Homocystinuria
Elevated hepatic transaminase, Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Opsismodysplasia
Hypophosphatemia OMIM:258480
Glycogen Storage Disease Due To Acid Maltase Deficiency
Abnormal circulating enzyme concentration or activity, Elevated circulating creatine kinase conce... ORPHA:365
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... OMIM:112240
46,Xx Gonadal Dysgenesis
Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density ORPHA:243
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis ORPHA:398079
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Osteootohepatoenteric Syndrome
Recurrent fractures, Reduced bone mineral density, Hypokalemia, Increased serum bile acid concent... OMIM:619377
Dyskeratosis Congenita
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Bo... ORPHA:1775
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypop... OMIM:229600
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Decreased circulating antibody level, Abnormal bone ossification, ... ORPHA:175
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Elevated circulat... ORPHA:800
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated hepatic transaminase, Osteoporosis, Elevated circulating creatine kinase concentration ORPHA:254892
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration OMIM:614749
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Joint ... OMIM:601812
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Vipoma
Hypercalcemia, Intrahepatic cholestasis, Intermittent jaundice, Hypokalemia, Normochromic anemia ORPHA:97282
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pheochromocytoma
Hypercalcemia OMIM:171300
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Prolactinoma
Osteopenia, Osteoporosis ORPHA:2965
Rothmund-Thomson Syndrome
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone minera... ORPHA:2909
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... ORPHA:391487
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia OMIM:175500
Xq12-Q13.3 Duplication Syndrome
Low alkaline phosphatase, Elevated circulating creatine kinase concentration ORPHA:314389
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Osteoporosis ORPHA:488632
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Elevated circulating alkaline phosphatase concentration, Delayed ossification of carpal bones OMIM:239300
Frank-Ter Haar Syndrome
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity OMIM:249420
Stuve-Wiedemann Syndrome 1
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:601559
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Osteolysis, Rickets, Hepatitis, Joint hyperflex... ORPHA:198
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Mic... OMIM:619525
Cranioectodermal Dysplasia 1
Joint laxity, Sagittal craniosynostosis, Osteoporosis, Hypocalcemia, Hepatic failure OMIM:218330
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Osteoporosis, Tracheomalacia, Hep... OMIM:203700
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Hypercalcemia, Elevated circulating cre... ORPHA:904
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Osteoporosis ORPHA:398069
Somatostatinoma
Intrahepatic cholestasis, Hypercalcemia, Hypochromic microcytic anemia, Intermittent jaundice ORPHA:97283
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hyperalaninemia, Osteoporosis, Elevated circulating alpha-fetoprot... OMIM:615273
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... OMIM:259770
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Hypercalcemia, Portal hypertension, Flexion contracture, Osteoporosis, ... OMIM:194050
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Decreased serum zinc, Low alkaline phosphatase, Impaired T cell function OMIM:201100
Glass Syndrome
Generalized osteoporosis, Camptodactyly OMIM:612313
Glucagonoma
Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, Intermittent jaundice, Normochromic anemia ORPHA:97280
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad... ORPHA:536467
Ppoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97278
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis ORPHA:2232
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Elevated circulating al... ORPHA:67
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, ... ORPHA:567983
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t... ORPHA:18
Caroli Disease
Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, In... ORPHA:53035
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Osteoporosis ORPHA:98754
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... OMIM:166220
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr... OMIM:102500
Prader-Willi Syndrome
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:739
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Hardikar Syndrome
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Splenomegaly, Jaundice, Osteop... OMIM:301068
Menkes Disease
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Prol... ORPHA:565
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Osteoporosis ORPHA:98793
Multiple Endocrine Neoplasia Type 2
Joint laxity, Hypercalcemia ORPHA:653
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Decreased circulating IgG level, Severe B lympho... OMIM:620005
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Osteoporosis ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Osteoporosis ORPHA:177901
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ... ORPHA:955
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Anemia, Iron deficiency an... ORPHA:79408
Prader-Willi Syndrome
Osteopenia, Osteoporosis OMIM:176270
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Hypocalcemia, Decreased circula... OMIM:607143
Grfoma
Intrahepatic cholestasis, Hypercalcemia, Intermittent jaundice ORPHA:97261
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration OMIM:615716
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Rothmund-Thomson Syndrome Type 2
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangis... ORPHA:221008
Cystic Fibrosis
Osteopenia, Osteoporosis, Elevated hepatic transaminase ORPHA:586
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Osteoporosis, Joint laxity OMIM:225400
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:309000
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:69665
Timothy Syndrome
Hypocalcemia OMIM:601005
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hepatic failure, Hypoproteinemia, Hypocalcemia OMIM:235255
Zollinger-Ellison Syndrome
Jaundice, Hypercalcemia ORPHA:913
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Elevate... OMIM:617156
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... OMIM:618183
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal circulating enzyme concentration or activity, Osteoporosis, Increased suscep... ORPHA:909
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Splenomegaly, Decreased circulating antibody level, Hy... ORPHA:2136
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hypokalemia, Osteoporosis ORPHA:91347
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Increased circulating IgG level, Elevated circulating alkaline pho... ORPHA:562639
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density ORPHA:935
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Elevated circulating alkaline... ORPHA:85443
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... OMIM:271640
Isolated Biliary Atresia
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Elevated ci... ORPHA:30391
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Recurrent fractures, Camptodactyly ORPHA:3063
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint... ORPHA:79474
Dpagt1-Cdg
Elevated hepatic transaminase, Flexion contracture, Osteoporosis, Camptodactyly, Anemia ORPHA:86309
Alkaptonuria
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... ORPHA:56
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hepatic failure, Hypoproteinemia ORPHA:1655
Caroli Syndrome
Elevated hepatic transaminase, Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia,... ORPHA:480520
Developmental And Epileptic Encephalopathy 95
Joint laxity, Multiple joint contractures, Low alkaline phosphatase, Elevated circulating alkalin... OMIM:618143
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia, Elevated c... ORPHA:247691
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Hypocalcemia ORPHA:3426
Sotos Syndrome
Joint laxity, Hip contracture, Hypercalcemia, Craniosynostosis, Ankle flexion contracture, Bilate... ORPHA:821
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Osteoporosis, Joint hypermobility ORPHA:536545
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:90796
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali... ORPHA:536471
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari... OMIM:305000
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility ORPHA:558
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis, Abnormal blood ion concentration, Anemia ORPHA:79404
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Hypocalcemia ORPHA:746
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis... ORPHA:666
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr... OMIM:137920
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Distal arthr... OMIM:618268
Cockayne Syndrome B
Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the... OMIM:133540
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis ORPHA:96253
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture OMIM:210730
Reynolds Syndrome
Calcinosis, Elevated hepatic transaminase, Splenomegaly, Jaundice, Elevated circulating alkaline ... OMIM:613471
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating... ORPHA:340
Primrose Syndrome
Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Elevated circulat... OMIM:259050
Boudin-Mortier Syndrome
Joint laxity, Elevated alkaline phosphatase of bone origin OMIM:619543
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Septic a... ORPHA:544482
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Decreased serum iron, Osteoporosis, Anemia ORPHA:438213
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Wolf-Hirschhorn Syndrome
Osteoporosis ORPHA:280
Gallbladder Disease 1
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:600803
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis ORPHA:2396
Mirizzi Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:521219
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein... OMIM:619991
Wild Type Attr Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:330001
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat... ORPHA:100085
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Hepatosplenomegaly, Elevated circulating alka... ORPHA:84081
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Osteoporosis ORPHA:459070
46,Xy Partial Gonadal Dysgenesis
Osteoporosis ORPHA:251510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevat... OMIM:300868
Hyperphosphatasia-Intellectual Disability Syndrome
Elevated circulating alkaline phosphatase concentration ORPHA:247262
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration OMIM:618580
Igg4-Related Thyroid Disease
Hypocalcemia, Increased circulating IgG4 level ORPHA:64744
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Portal hypertension, C... OMIM:619534
22Q11.2 Deletion Syndrome
Impaired T cell function, Splenomegaly, Multiple suture craniosynostosis, Joint hyperflexibility,... ORPHA:567
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, T ... ORPHA:83471
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density ORPHA:99413
Turner Syndrome
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density ORPHA:881
Mosaic Monosomy X
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density ORPHA:99228
Monosomy X
Osteopenia, Osteoporosis, Elevated hepatic transaminase, Reduced bone mineral density ORPHA:99226
Gitelman Syndrome
Hypermagnesemia, Gout, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function OMIM:192430
Loeys-Dietz Syndrome 2
Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:610168
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
17Q11 Microdeletion Syndrome
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones ORPHA:97685
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:280000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Wide anterior fontanel, Elevated circulating alkaline phosphatase concentration OMIM:618548
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Abnormality of alkaline phosphatase level, Limited elbow extension, Delayed ossific... OMIM:300106
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Elevated circulating alkaline phosphatase concentration OMIM:614207
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge... OMIM:608232
Singleton-Merten Syndrome 1
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand OMIM:182250
Multiple Osteochondromas
Limitation of joint mobility, Abnormal cartilage morphology, Arthritis, Limited hip movement, Lim... ORPHA:321
Generalized Arterial Calcification Of Infancy
Calcification of the auricular cartilage, Elevated alkaline phosphatase of bone origin, Osteomala... ORPHA:51608
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia, Reduced bone mineral density ORPHA:47159
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concen... OMIM:124000
Pmm2-Cdg
Osteopenia, Joint laxity, Elevated hepatic transaminase, Multiple joint contractures, Reduced thy... ORPHA:79318
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis ORPHA:99889
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hemolytic anemia, Hyperextensibility of the finger joints, Hip contracture, Portal ... OMIM:619503
Johanson-Blizzard Syndrome
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Increased VLDL chole... OMIM:243800
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocy... OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Hypocalcemia OMIM:620330
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... ORPHA:100086
Charge Syndrome
Lymphopenia, Hypocalcemia OMIM:214800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Atp6v1h

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Atp6v1h.

No publications found that use IMPC mice or data for Atp6v1h.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Atp6v1hem1(IMPC)Bay Exon Deletion Mice
Atp6v1htm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atp6v1htm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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