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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 phosphate level Pou2af3tm1b(NCOM)Mfgc HOM Early adult 5.11×10-05
increased neutrophil cell number Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.84×10-06
male infertility Pou2af3tm1b(NCOM)Mfgc HOM Early adult 0.00
decreased prepulse inhibition Pou2af3tm1b(NCOM)Mfgc HOM Early adult 5.10×10-11
increased grip strength Pou2af3tm1b(NCOM)Mfgc HOM   Early adult 1.40×10-05
decreased startle reflex Pou2af3tm1b(NCOM)Mfgc HOM   Early adult 2.30×10-06
increased heart rate variability Pou2af3tm1b(NCOM)Mfgc HOM Early adult 3.34×10-05
decreased fasting circulating glucose level Pou2af3tm1b(NCOM)Mfgc HOM   Early adult 1.55×10-05
decreased bone mineral content Pou2af3tm1b(NCOM)Mfgc HOM Early adult 2.63×10-08
short tibia Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.19×10-06
decreased bone mineral density Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.68×10-13
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 2.58×10-06
decreased lymphocyte cell number Pou2af3tm1b(NCOM)Mfgc HOM Early adult 1.31×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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XRay Images Whole Body Dorso Ventral

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XRay Images Skull Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

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Histopathology

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Gross Pathology and Tissue Collection

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Eye Morphology

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Immunophenotyping

Panel B FCS file(s)

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Eye Morphology

Images Slit Lamp

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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
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... ORPHA:79445
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... ORPHA:168621
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Hyperphosphatemia, Subcutaneous ossi... OMIM:103580
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia, Abnormal left vent... ORPHA:36913
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Osteoporosis, Hyperphosphatemia, Hypogonadism, Hypocalcemia, ... OMIM:612462
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating creatinine conce... OMIM:617872
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu... OMIM:619073
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Increased bone mineral density, Short metacarpal, Short fifth ... ORPHA:79444
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Thrombocytosis, Elevated circulating creatine kinase concentration, Oc... ORPHA:94093
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short foot, Hyperphosphatemia, H... OMIM:241410
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Pseudohypoparathyroidism Type 1A
Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan... ORPHA:79443
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Increased bone mineral density, Cortical subperiosteal resorpt... ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Cryptorchidism, Neonatal epiphyseal stippling, Short metatarsal,... OMIM:101800
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler... OMIM:617994
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Reduced bone mineral density, Fatigable weakness, Hyper... ORPHA:428
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngea... ORPHA:94090
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short foot, Hyperphosphatemia, H... ORPHA:2323
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
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
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... OMIM:241530
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300554
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Neonatal hypoglycemia, Increased blood urea nitroge... OMIM:223360
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:264700
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Anemia, Cortical t... ORPHA:93325
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Craniosynostosis, ... ORPHA:356961
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia... ORPHA:89937
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:277440
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevate... ORPHA:340
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Hypocalcemia, ... ORPHA:93160
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... ORPHA:230
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300009
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia OMIM:211900
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Hypopho... ORPHA:2611
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Cryptorchidism, Hypoplasia of t... OMIM:607143
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, S... ORPHA:289157
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Stuve-Wiedemann Syndrome 1
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... ORPHA:89936
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... ORPHA:423
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Schistocytosis, Elevat... OMIM:274150
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... ORPHA:249
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Fanconi Renotubular Syndrome 5
Genu valgum, Hypophosphatemia, Hypertension, Glycosuria, Hypophosphatemic rickets OMIM:618913
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Hypercalcemia, Micrognathia, Metaphyseal c... OMIM:156400
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration... ORPHA:157215
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612926
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Colchicine Poisoning
Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnormal blood io... ORPHA:31824
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose t... ORPHA:2088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612924
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Hypercalcemia, Craniosynostosis, Hypertension, Increased blood urea nitrogen... ORPHA:251004
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... OMIM:620076
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Elevated circulating creatinine concentration, Hypertension, Microangiopathic h... OMIM:612925
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... ORPHA:466650
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612287
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypoglycemia, Hypouricemia, Rickets, Glycosuria, Hypophosphatemia OMIM:616026
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Hypoglycemia, Postural tremor, Decreased ferti... ORPHA:79239
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia OMIM:613388
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Recurrent fractures, Osteomalacia,... ORPHA:562
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612286
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes e... OMIM:620306
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia... OMIM:227810
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Decreased serum iron, Pul... ORPHA:447
Cockayne Syndrome Type 1
Foot joint contracture, Tremor, Cryptorchidism, Hypertension, Increased blood urea nitrogen, Male... ORPHA:90321
Cystinosis
Portal hypertension, Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus ORPHA:213
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria OMIM:134600
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morpholo... ORPHA:1988
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia ORPHA:2582
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Talipes equ... OMIM:619743
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... ORPHA:75564
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini... OMIM:154230
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e... ORPHA:96334
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Recurre... ORPHA:1652
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopenia, Joint hyper... OMIM:620210
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Opsismodysplasia
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... OMIM:258480
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bo... ORPHA:667
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... OMIM:617780
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Hypercalcemia, Splenomegaly, Anemia, Hypophosphatemia, Metaphyse... OMIM:239200
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Rocker bottom foot, Hypoglycemia, Radial club hand,... OMIM:617053
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Ataxia-Telangiectasia
Diabetes mellitus, Telangiectasia of the skin, Tremor, Type II diabetes mellitus, Lymphopenia, Ab... ORPHA:100
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Congenital Disorder Of Glycosylation, Type Iic
Short foot, Reduction of neutrophil motility, Neutrophilia, Brachydactyly OMIM:266265
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Cystinosis, Nephropathic
Hyponatremia, Male infertility, Diabetes mellitus, Splenomegaly, Metaphyseal widening, Rickets, R... OMIM:219800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t... OMIM:609441
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Sh... ORPHA:79102
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Exaggerated startle response, Opisthotonus, Hypertension, Anemia OMIM:184850
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Type I diabetes mellitus, Lymp... OMIM:620365
Necrotizing Enterocolitis
Hyponatremia, Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose homeos... ORPHA:391673
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Transient ischemic attack, Bilateral cryptorchidism, Thrombocytopenia, ... OMIM:242900
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... OMIM:147750
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Increased susceptibil... ORPHA:3337
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine c... OMIM:613179
Sneddon Syndrome
Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Lymphopenia OMIM:182410
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... OMIM:259775
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Abnormal ... ORPHA:411634
Aromatase Deficiency
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Cardiac conduction abnormality, Hypomagnesemia,... ORPHA:699
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate ... OMIM:263520
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Macrocytic anemia, Impaired lymphocyte transformation with p... OMIM:250250
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia, Pedal edema OMIM:152800
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... ORPHA:2307
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fusion, 2-3 toe cutaneous ... OMIM:206920
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... OMIM:612852
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Le... ORPHA:36238
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Cr... ORPHA:534
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Myocarditis, L... ORPHA:829
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Transient ischemic attack, Abnormal femoral head morphology, Cong... ORPHA:1830
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Opisthotonus, T lymphocytopenia, Narrow greater sciatic not... ORPHA:508533
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial hemorrhage, M... ORPHA:3226
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-f... OMIM:208900
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia ORPHA:1116
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Talipes equinovarus, Neutropenia, Lymphopenia, Reduced nat... OMIM:619752
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Delayed ossification of ca... OMIM:617425
Omodysplasia 2
Short humerus, Dyspareunia, Micrognathia, Cryptorchidism, Fibular hypoplasia, Limited elbow flexi... OMIM:164745
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia ORPHA:469
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Glycosuria ORPHA:411629
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Lymphopenia OMIM:617575
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Congestiv... ORPHA:508542
Pgm3-Cdg
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... ORPHA:443811
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... OMIM:164900
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, T lymphoc... OMIM:617237
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... ORPHA:99826
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Fl... OMIM:617301
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Shor... OMIM:227650
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Short iliac bones, Raynaud phenomenon, Metaphyseal sclerosis, Metaphyseal ... OMIM:607944
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration OMIM:614204
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Bradycardia OMIM:608800
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardiomyopathy, F... ORPHA:79255
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... ORPHA:140
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Lujo Hemorrhagic Fever
Shock, Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Myocard... ORPHA:319213
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypertension, Hypophosphatemia OMIM:104200
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Testicular neoplasm, Shortened QT interval, Osteoporosis, Hypophosphatemia ORPHA:99880
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, In... OMIM:617099
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru... OMIM:229600
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Parathyroid Carcinoma
Hypercalcemia, Testicular neoplasm, Shortened QT interval, Osteoporosis, Hypophosphatemia ORPHA:143
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture, Absent Achilles reflex, Ankle clonus, Pes cavus OMIM:609541
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... OMIM:208500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Tre... ORPHA:845
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, T... ORPHA:391487
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud... OMIM:615688
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... OMIM:616005
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplasia, Thrombocyt... OMIM:612541
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia ORPHA:935
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Ankle swelling, Raynaud... ORPHA:3260
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Myocardial infarction, Fatiguable weakness of prox... ORPHA:96253
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... ORPHA:521426
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Flexion contracture, Arthritis, Finger swel... OMIM:617591
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Hyporeflexia of lower limbs, Exaggerated startle response, Multiple joint contractures, Pes cavus ORPHA:320406
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Acromelic Frontonasal Dysplasia
Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypo... ORPHA:1827
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... OMIM:127550
Sandhoff Disease, Infantile Form
Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... ORPHA:99827
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Sandhoff Disease
Orthostatic hypotension, Impotence, Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... OMIM:236680
Tibial Hemimelia
Absent tibia OMIM:275220
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture OMIM:618201
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto... ORPHA:3261
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:253800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response, Limb joint contracture OMIM:620327
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ankle clonus, Exaggerated startle response, Overlapping toe OMIM:618598
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Cranioectodermal Dysplasia 1
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... OMIM:218330
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Clinodactyly of the 5th finger, Exaggerated startle response, Tremor, Truncal titubation OMIM:618056
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge... OMIM:617527
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Charge Syndrome
Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Micrognathia, Abse... OMIM:214800
Yellow Fever
Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... ORPHA:99829
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility ORPHA:244
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response OMIM:616881
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Asparagine Synthetase Deficiency
Exaggerated startle response, Micrognathia, Tremor, Large hands, Long foot, Hypoasparaginemia OMIM:615574
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Goodpasture Syndrome
Anemia, Pulmonary hemorrhage, Increased blood urea nitrogen OMIM:233450
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia, Macroorchidism ORPHA:8
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Exaggerated startle response OMIM:617864
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosis, Osteopathi... OMIM:300373
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Orofaciodigital Syndrome Type 4
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand p... ORPHA:2753
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Decreased serum iron, Cryptorchidism, Ost... ORPHA:438213
Kinsship Syndrome
Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl... OMIM:619297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Asplenia, Male infertility OMIM:244400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... OMIM:613471
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Hallux valgus, Tachycardia, Male infertility, Streak ovary, Unilateral cry... ORPHA:1772
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Impaired glucose tolerance, Myocardial infarction, Fatiguable weakness of prox... ORPHA:99889
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Tapered finger OMIM:618367
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Congestive heart failure, Small hand, Fibular hypoplasia, Hypoplasia of proximal ra... ORPHA:444077
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Cryptorchidism, Short foot,... OMIM:619522
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Micrognathi... OMIM:163950
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180

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
Testis - MPATH pathological process term dysplasia 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

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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