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Gene: Pou2af3 MGI:2685530

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Gene Summary

Name:
POU class 2 homeobox associating factor 3
Synonyms:
OCA-T2,  Gm684,  LOC270157,  Colca2

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
increased circulating alkaline phosphatase level Pou2af3tm1b(NCOM)Mfgc HOM   Early adult 8.25×10-05
increased circulating phosphate level Pou2af3tm1b(NCOM)Mfgc HOM Early adult 4.85×10-05
male infertility Pou2af3tm1b(NCOM)Mfgc HOM Early adult 0.00
increased grip strength Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.29×10-05
increased neutrophil cell number Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.96×10-06
decreased prepulse inhibition Pou2af3tm1b(NCOM)Mfgc HOM Early adult 3.54×10-09
decreased startle reflex Pou2af3tm1b(NCOM)Mfgc HOM   Early adult 7.87×10-07
increased heart rate variability Pou2af3tm1b(NCOM)Mfgc HOM Early adult 3.34×10-05
decreased bone mineral content Pou2af3tm1b(NCOM)Mfgc HOM Early adult 2.63×10-08
decreased bone mineral density Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.68×10-13
short tibia Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.19×10-06
increased leukocyte cell number Pou2af3tm1b(NCOM)Mfgc HOM   Early adult 2.56×10-05
increased blood urea nitrogen level Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.58×10-06
decreased fasting circulating glucose level Pou2af3tm1b(NCOM)Mfgc HOM   Early adult 1.55×10-05
decreased lymphocyte cell number Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.44×10-05

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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.

Gross Pathology and Tissue Collection

Images

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Eye Morphology

Images Ophthalmoscopy

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Immunophenotyping

Panel A FCS file(s)

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

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Histopathology

Images

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

5 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Pou2af3 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 Pou2af3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Congenital hip dislocation, Flattened femoral head, Delayed femoral head ossificati... ORPHA:168621
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphyses of the phalanges of the hand, Hypocalcemia, Delayed epiphyseal ossification... OMIM:618618
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Short metacarpal, Subcutaneous ossification, Osteoporosis, Short ... OMIM:103580
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Prolonged QT interval, Increased bone mineral density, Hypocalcemia, Ventr... ORPHA:36913
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Prolonged QT interval, Diaphyseal sclerosis, Increased bone mineral densit... ORPHA:94089
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemi... ORPHA:94090
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Hypocalcemia, Short metacarpal, Osteoporosis, Brachydactyly, Hypogonadism, Hypo... OMIM:612462
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Pancytopenia, Hypergonadotropic hypogonadism, Incr... OMIM:617872
Neuroleptic Malignant Syndrome
Hyperkalemia, Pulmonary embolism, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Bradycardia, Tr... ORPHA:94093
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Bowing of the long ... OMIM:239000
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Flared metaphysis, Metaphyseal cupping, Hypocalcemia, Hypophosphatemia, Bowing of the... OMIM:619073
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hypotension, Elevated circulating creatine kinase concentration, Tachycardia, Hyper... OMIM:145600
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Short metatarsal,... ORPHA:79444
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Prolonged QT interval, Hypertension, Short metacarpal, Short 4th me... ORPHA:79443
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Short metacarpal, Brachydactyly OMIM:603233
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Short palm, Micrognathia, Hyperphosph... OMIM:241410
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia, Recurrent hypoglycemia ORPHA:94086
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... OMIM:101800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles... OMIM:600081
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Autosomal Dominant Hypocalcemia
Congestive heart failure, Reduced bone mineral density, Writer's cramp, Fatigable weakness, Hypoc... ORPHA:428
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Pulmonary arterial hypertension, Increased blood urea nitrog... OMIM:613845
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Fatigable weakness of swallowing muscles, Arrhythmia, Hyperphosphatem... ORPHA:99845
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Kenny-Caffey Syndrome, Type 2
Anemia, Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Increa... OMIM:127000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:241530
Orthostatic Hypotension 1
Neonatal hypoglycemia, Retrograde ejaculation, Orthostatic hypotension, Atrial fibrillation, Incr... OMIM:223360
Sanjad-Sakati Syndrome
Hypocalcemia, Patchy osteosclerosis, Micrognathia, Hyperphosphatemia, Short foot, Small hand ORPHA:2323
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Increased susceptibility to fractures, Hypocalcemic seizures, Delayed epiphyseal ossific... ORPHA:289157
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Aplasia/hypoplas... ORPHA:356961
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Achilles tendon calcification, Metacarpal periosteal thicke... OMIM:617994
Hemochromatosis, Type 3
Anemia, Arthritis, Cardiomyopathy, Impotence, Increased circulating iron concentration, Lymphopen... OMIM:604250
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, En... OMIM:264700
Calciphylaxis
Hyperphosphatemia, Ectopic ossification ORPHA:280062
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Prolonged QTc interval, Elevated c... ORPHA:231111
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Osteomalacia, Bow... ORPHA:89937
Vitamin D-Dependent Rickets, Type 2A
Rickets, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, Enlargement of t... OMIM:277440
Eiken Syndrome
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Hypocalcemia, Bone cys... ORPHA:93160
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hematemesis, Elevated circulating creatinine concentration, Anemia, Melena, Capilla... ORPHA:340
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Retrograde ejaculation, Elevated circulating creatinine concentration, ... ORPHA:230
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Anemia, Calvarial osteosclerosis, Decreased skull ossification, Thin long ... ORPHA:93325
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:300009
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs, Hypophosphatemia OMIM:146350
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Supraventricular tachycardia, Premature ventricular contraction, Elevated creatine ... ORPHA:423
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Talipes, Genu recurvatum, Short metacarpal, Hypophosphatemia, Toe s... ORPHA:2611
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia, Osteomalacia OMIM:193100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,... ORPHA:89936
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, Short femur, Short hu... OMIM:607143
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Transient ischemic attack, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopen... OMIM:274150
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Increased circulatin... ORPHA:157215
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Genu valgum, Hypertension, Glycosuria, Hypophosphatemia OMIM:618913
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short ribs,... OMIM:156400
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Pathologic fract... ORPHA:352540
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Hypophosphatemia, Pathologic fracture, Osteolysis, Rickets, Abnormal t... ORPHA:249
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Hypomagnesemia 3, Renal
Rickets, Genu valgum, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide co... OMIM:248250
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612926
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Bowi... ORPHA:2088
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612924
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Craniosyno... ORPHA:251004
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Leukocytosis, Hypotension, Hypo... ORPHA:31824
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612925
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration OMIM:614817
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal pulse pressure, El... ORPHA:466650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, M... OMIM:235400
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ri... OMIM:620076
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hypouricemia, Glycosuria, Hypophosphatemia, Hypoglycemia, Diabetes mellitus OMIM:616026
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Tric... OMIM:620306
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip dislocation, Fi... ORPHA:1106
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Hypophosphatemia, Osteomalacia, Recurrent fractures OMIM:613388
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia... OMIM:227810
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Anemia, Reduced haptoglobin level, Pancytopenia, Hypertension, Abnormal er... ORPHA:447
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto... OMIM:619743
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Retrograde ejaculation, Large vessel vasculitis, Elevated circulating C-reacti... ORPHA:49041
Classic Galactosemia
Premature ovarian insufficiency, Reduced bone mineral density, Male infertility, Secondary amenor... ORPHA:79239
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia ORPHA:99879
Cystinosis
Rickets, Hypokalemia, Portal hypertension, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Cockayne Syndrome Type 1
Anemia, Foot joint contracture, Tremor, Hypertension, Increased blood urea nitrogen, Male hypogon... ORPHA:90321
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Osteomalacia OMIM:134600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia OMIM:200900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Mccune-Albright Syndrome
Decreased fertility, Abnormal femur morphology, Aneurysmal bone cyst, Pancytopenia, Polyostotic f... ORPHA:562
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypotension, Increas... ORPHA:91547
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Abnormality of the lower lim... ORPHA:1652
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Micrognathia... OMIM:154230
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, High-output congestive... ORPHA:231222
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegal... OMIM:209950
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto... ORPHA:75564
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Abnormal pelvic girdle bone morphology, Coxa vara,... ORPHA:1988
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Opsismodysplasia
Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Flat acetabular roof, S... OMIM:258480
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypertension, Increased blood urea nitrogen, Tachycardia, Elevated circu... OMIM:223900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Hypocalcemia... ORPHA:667
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Joint stiffness, Leukopenia, Splenomegaly, Lymphopenia, Joint hyper... OMIM:620210
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Systemic Lupus Erythematosus 17
Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune th... OMIM:301080
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
Hyperparathyroidism, Neonatal Severe
Calcinosis, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly, Metaphyseal irregularity, Recu... OMIM:239200
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol... ORPHA:232
Mirage Syndrome
Rocker bottom foot, Hyperkalemia, Anemia, Radial club hand, Hypergonadotropic hypogonadism, Hypon... OMIM:617053
Omodysplasia 1
Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ... OMIM:258315
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Osteolysis, Pancyt... ORPHA:98850
Cystinosis, Nephropathic
Rickets, Male infertility, Hypophosphatemic rickets, Genu valgum, Male hypogonadism, Hypokalemia,... OMIM:219800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Prolonged QT interval, Tremor, Episodic hypokalemia, Ve... ORPHA:79102
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Pedal edema, Lymphopenia OMIM:152800
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Short foot, Brachydactyly OMIM:266265
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Eosinophili... OMIM:226990
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hypoglycemia, Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, E... ORPHA:486
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Disabling Pansclerotic Morphea Of Childhood
Joint contracture, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase... OMIM:620603
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Micromeli... OMIM:259775
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Hypotension, Neutrophilia, L... ORPHA:36238
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Short long bone, Leukopenia, Thrombocytopenia,... OMIM:301110
Stiff-Person Syndrome
Anemia, Hypertension, Exaggerated startle response, Opisthotonus, Tachycardia, Diabetes mellitus OMIM:184850
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Elevated circulating C-reactive protein concen... OMIM:612852
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Juvenile Nephropathic Cystinosis
Abnormal long bone morphology, Hypokalemia, Hypocalcemia, Hypouricemia, Hypovolemia, Glycosuria, ... ORPHA:411634
Generalized Pustular Psoriasis
Congestive heart failure, Elevated circulating C-reactive protein concentration, Hypocalcemia, Ar... ORPHA:247353
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Pearson Syndrome
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Cardiomyopathy, Reticulocytosis... ORPHA:699
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Ataxia-Telangiectasia
Conjunctival telangiectasia, Tremor, Abnormal spermatogenesis, Hypoplasia of the thymus, T lympho... OMIM:208900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Lateral displacement of the femoral head, Anemia, Pancyto... OMIM:242900
Aromatase Deficiency
Osteopenia, Male infertility, Genu valgum, Delayed epiphyseal ossification, Hyperlipidemia, Osteo... ORPHA:91
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Anemia, Abnormal proportion of naive CD4 T cells, Abno... ORPHA:1830
Cartilage-Hair Hypoplasia
Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr... OMIM:250250
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Thrombocyt... OMIM:619644
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Leukocytosis, Joint st... ORPHA:2307
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Genu valgum, Anemia, Hypokalemia, Azoospermia, Arthritis, Abnorma... ORPHA:534
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Reni Syndrome
Hypertriglyceridemia, Hypogonadism, Lymphopenia, Hypoalbuminemia, Hypoglycemia OMIM:617575
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, T ly... ORPHA:508533
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Marburg Hemorrhagic Fever
Bradycardia, Reticulocytosis, Hyperammonemia, Pericarditis, Leukopenia, Lymphopenia, Elevated cir... ORPHA:99826
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Infantile Nephropathic Cystinosis
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus OMIM:620365
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Cutaneous abscess, Lymphopenia, Joint hypermobility, Reduc... OMIM:619752
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Anemia, Elevated circulating C-reactive pr... ORPHA:829
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Oligoarthritis OMIM:614204
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Delayed ossification of carpal bones, Epiph... OMIM:617425
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytope... ORPHA:508542
Pgm3-Cdg
Decreased/absent ankle reflexes, Decreased proportion of CD3-positive T cells, Neutropenia in pre... ORPHA:443811
Multiple Mitochondrial Dysfunctions Syndrome 7
Exaggerated startle response, Hypernatremia, Dystonia, Hyperglycemia, Thrombocytopenia, Ankle clo... OMIM:620423
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Avian Influenza
Congestive heart failure, Elevated circulating C-reactive protein concentration, Elevated circula... ORPHA:454836
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Joint stiffness, Leukopenia, Rayna... OMIM:615934
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal irregularity, Short iliac bones, Metaphyseal sclerosis, Juvenile rheumatoid arthritis... OMIM:607944
Glycine Encephalopathy With Normal Serum Glycine
Genu recurvatum, Elbow flexion contracture, Exaggerated startle response, Hand clenching, Hip con... OMIM:617301
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Increased proportion of CD4-positive T cel... OMIM:617099
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop... ORPHA:90362
Lujo Hemorrhagic Fever
Myocarditis, Stiff neck, Elevated circulating C-reactive protein concentration, Bradycardia, Rest... ORPHA:319213
Alport Syndrome 3A, Autosomal Dominant
Hypertension, Hypophosphatemia, Azotemia OMIM:104200
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Wiskott-Aldrich Syndrome
Hematemesis, Abnormal platelet morphology, Epistaxis, Hematochezia, Lymphopenia, Neutropenia, Abn... ORPHA:906
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h... OMIM:300908
Fructose Intolerance, Hereditary
Bicarbonaturia, Gastrointestinal hemorrhage, Hyperuricemia, Hyperbilirubinemia, Glycosuria, Hypop... OMIM:229600
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Comple... OMIM:227650
Hereditary Amyloidosis With Primary Renal Involvement
Congestive heart failure, Male infertility, Decreased HDL cholesterol concentration, Anemia, Gast... ORPHA:85450
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain... ORPHA:54251
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o... OMIM:208500
Sweet Syndrome
Small vessel vasculitis, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein ... ORPHA:3243
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo... ORPHA:140
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Arthritis, Vasculiti... OMIM:615688
Fibrochondrogenesis 1
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin... OMIM:228520
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... ORPHA:958
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Short long bone, Cardiomyopathy, Broad metacarpals, Flared iliac wing,... ORPHA:79255
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Pes cavus, Exaggerated startle response, Absent Achilles reflex, Flexion contracture, Ankle clonus OMIM:609541
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Hypercalcemia, Hypophosphatemia, Osteoporosis ORPHA:99880
Tay-Sachs Disease
Limited elbow extension, Increased serum beta-hexosaminidase, Tremor, Limited knee extension, Exa... ORPHA:845
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Arthritis, Thrombocytopenia, Splenomegaly, Flexion contracture, Lym... OMIM:617591
Parathyroid Carcinoma
Shortened QT interval, Hypercalcemia, Hypophosphatemia, Osteoporosis ORPHA:143
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia ORPHA:405
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Hypotension, Limb dystonia, Exaggerated... OMIM:608643
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Exaggerated startle ... OMIM:253800
Familial Mediterranean Fever
Elevated circulating C-reactive protein concentration, Arthritis, Leukocytosis, Pericarditis, Neu... OMIM:249100
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Intraalveolar... OMIM:620565
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Idiopathic Hypereosinophilic Syndrome
Clubbing, Splenomegaly, Supraventricular arrhythmia, Myelofibrosis, Transient ischemic attack, Sw... ORPHA:3260
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Long fibula ORPHA:935
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxis, Diffuse alveolar hem... ORPHA:99827
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polydactyly, Exaggera... ORPHA:521426
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... OMIM:114290
Cushing Disease
Amenorrhea, Myocardial infarction, Decreased eosinophil count, Secondary amenorrhea, Hypertension... ORPHA:96253
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Pes cavus, Multiple joint contractures, Exaggerated startle response, Hyporeflexia of lower limbs ORPHA:320406
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Osteopenia, Congestive heart failure, B lymphocytopenia, Neutropenia... ORPHA:391487
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary arterial hype... OMIM:612541
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response ORPHA:309155
Combined Oxidative Phosphorylation Deficiency 58
Hypoglycemia, Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Osteoporosis, L... OMIM:127550
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Impotence, Exaggerated startle response OMIM:268800
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... OMIM:200980
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Tibial Hemimelia
Absent tibia OMIM:275220
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of h... OMIM:236680
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad distal phalanges of all fingers... OMIM:218330
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response, Ankle clonus OMIM:618598
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Hyperbiliru... ORPHA:99829
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Lymphocytosis, Neutropenia in prese... ORPHA:3261
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, Azoospermia, Abnormal ... ORPHA:125
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Exaggerated startle response, Postaxial polydactyly, Long fingers, Micrognath... OMIM:617527
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Clinodactyly of the 5th finger, Exaggerated startle response OMIM:618056
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph... OMIM:102700
Asparagine Synthetase Deficiency
Long foot, Hypoasparaginemia, Tremor, Exaggerated startle response, Micrognathia, Large hands OMIM:615574
Charge Syndrome
Hypoplasia of the ulna, Hypocalcemia, Absent tibia, Hand monodactyly, Bilateral talipes equinovar... OMIM:214800
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Goodpasture Syndrome
Increased blood urea nitrogen, Pulmonary hemorrhage, Anemia OMIM:233450
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Limb joint contracture, Exaggerated startle response OMIM:620327
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p... OMIM:619573
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response OMIM:616881
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypokalemia, Decreased circulating renin level, Hypertension, Primary amenorrhe... ORPHA:90793
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Exaggerated startle response OMIM:617864
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Pos... OMIM:304120
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Right ventricular failure, Intestinal bleeding, L... ORPHA:90363
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai... OMIM:301000
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Lip telangiectasia, Hyperbilirubinemia, Splenomegaly, Ra... OMIM:613471
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Kinsship Syndrome
Osteopenia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes... OMIM:619297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Orofaciodigital Syndrome Type 4
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... ORPHA:2753
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Anemia, Exaggerated startle response, Osteoporosis, Pulmonic stenosis, Dystonia, Decr... ORPHA:438213
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Cushing Syndrome Due To Ectopic Acth Secretion
Amenorrhea, Myocardial infarction, Decreased eosinophil count, Secondary amenorrhea, Hypertension... ORPHA:99889
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger, Exaggerated startle response OMIM:618367
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, T... ORPHA:444077
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Clinodactyly of the 5th finger, Broad toe, Short foot, Exaggerated startle response... OMIM:619522

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term spermatogenesis defect Pou2af3tm1b(NCOM)Mfgc HOM Early adult
Small intestine - MPATH pathological process term inflammation Pou2af3tm1b(NCOM)Mfgc HOM Early adult
Epididymis - MPATH pathological process term hypospermia Pou2af3tm1b(NCOM)Mfgc HOM Early adult
Testis - MPATH pathological process term dysplasia Pou2af3tm1b(NCOM)Mfgc HOM Early adult

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 Pou2af3.

No publications found that use IMPC mice or data for Pou2af3.

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
Pou2af3tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pou2af3tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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