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

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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 Skull Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Histopathology

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Gross Pathology and Tissue Collection

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8 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 A FCS file(s)

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Immunophenotyping

Panel B FCS file(s)

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Eye Morphology

Images Ophthalmoscopy

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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
Dysplasia Of Head Of Femur, Meyer Type
Congenital hip dislocation, Limited hip movement, Leukocytosis, Multicentric femoral head ossific... ORPHA:168621
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Hypocalcemia, Brachydactyly, Cone... OMIM:618618
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Short toe, Short finger, Hypogonadism, Hypocalcemic tetany, Subcutaneous ossif... OMIM:103580
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, ... ORPHA:36913
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Increased bone density with cystic ch... ORPHA:94089
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, ... ORPHA:94090
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypogonadism, Hypocalcemic tetany, Hypocalcemia, Brachydactyly, Osteoporosis, ... OMIM:612462
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea n... OMIM:617872
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Genu varum, B... OMIM:619073
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Oculogyric crisis, Hyperphosphatemia, Pulmonary embolism, Hypom... ORPHA:94093
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Increased bone mineral density, Hyperuricemia, Lateral femoral bow... OMIM:239000
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Hyperphosphatemi... ORPHA:79444
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Calcinosis, Short metacarpal, Choreoathetosis, Broad distal phalanx of the thu... ORPHA:79443
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly, Hyperphosphatemia, Hypocalcemia OMIM:603233
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot, Hyp... OMIM:241410
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypocalcemic seizures, Male infertility ORPHA:2239
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Hyperphosphatemia, Calvarial hyperostosis, Long hallux, Cone-shaped epiph... OMIM:101800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypo... OMIM:600081
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Autosomal Dominant Hypocalcemia
Hypotension, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Fatigable... ORPHA:428
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pulmonary arterial hyperte... OMIM:613845
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... ORPHA:1972
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia, Hyperkalemia, Fatig... ORPHA:99845
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Orthostatic Hypotension 1
Hypomagnesemia, Joint hypermobility, Brachydactyly, Increased blood urea nitrogen, Orthostatic hy... OMIM:223360
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... OMIM:127000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo... OMIM:241530
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Card... ORPHA:289157
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Short foot ORPHA:2323
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke... OMIM:300554
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Achill... OMIM:617994
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... OMIM:264700
Hemochromatosis, Type 3
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:604250
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Bow... ORPHA:89937
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul... OMIM:277440
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morphology, Recurrent fract... ORPHA:93160
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... ORPHA:340
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku... ORPHA:93325
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Glycosuria, Osteomalacia, Fibular bo... OMIM:300009
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ... ORPHA:423
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis OMIM:619398
Linear Verrucous Nevus Syndrome
Genu recurvatum, Toe syndactyly, Talipes, Hypophosphatemia, Reduced bone mineral density, Short m... ORPHA:2611
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia OMIM:211900
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb, Hypophosphatemia OMIM:193100
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Hypophosphate... ORPHA:89936
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Hypoglycemia, Hypocalcemia, Short humerus, Short ribs, Talip... OMIM:607143
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische... OMIM:274150
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Fanconi Renotubular Syndrome 5
Glycosuria, Hypophosphatemic rickets, Genu valgum, Hypophosphatemia, Hypertension OMIM:618913
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hip contracture, Knee flexion... OMIM:156400
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Oncogenic Osteomalacia
Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo... ORPHA:352540
Fibrous Dysplasia Of Bone
Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Hypophosphatemia, Abnormal mor... ORPHA:249
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... OMIM:248250
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Bowing of the long bones, Hypophosph... ORPHA:2088
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, Hyperca... ORPHA:251004
Colchicine Poisoning
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis, Hypocalce... ORPHA:31824
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... ORPHA:466650
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmet... ORPHA:289176
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus OMIM:616026
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... ORPHA:1106
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen... OMIM:620306
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Rickets, Glycosuria, Osteomalacia, Hyperbilirubinemia, ... OMIM:227810
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Impotence, Rheumatoid arthritis, Budd-Chiari syndrome, Elevated circulating cr... ORPHA:49041
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612286
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Impotence, Pulmonary embolism, Glycosuria, Budd-Chiari ... ORPHA:447
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Tal... OMIM:619743
Classic Galactosemia
Hypoglycemia, Postural tremor, Action tremor, Premature ovarian insufficiency, Abnormal erythrocy... ORPHA:79239
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:617960
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Cystinosis
Type I diabetes mellitus, Rickets, Portal hypertension, Hypokalemia, Hypophosphatemia ORPHA:213
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Cockayne Syndrome Type 1
Male hypogonadism, Foot joint contracture, Tremor, Increased blood urea nitrogen, Anemia, Hyperte... ORPHA:90321
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis ORPHA:1646
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Fanconi Renotubular Syndrome 1
Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus OMIM:200900
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Mccune-Albright Syndrome
Irregular menstruation, Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Pancyto... ORPHA:562
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619528
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Glycosuria, ... ORPHA:1652
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Distal symphalangism, Micrognathia, Increased bloo... OMIM:154230
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatospleno... ORPHA:231222
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... OMIM:616300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, ... OMIM:209950
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... ORPHA:75564
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Opsismodysplasia
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... OMIM:258480
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Azoospermia, Male infertility OMIM:619145
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Orthostatic hypoten... OMIM:223900
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Splenomegaly, Hypocalcemia, Tremor... ORPHA:667
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hypermobility, Reduced bone mineral... OMIM:620210
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia, Recu... OMIM:239200
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ... ORPHA:232
Mirage Syndrome
Rocker bottom foot, Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Overlapping fingers,... OMIM:617053
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... OMIM:258315
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, ... ORPHA:98850
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Rickets, Glycosuria, Hypomagnes... OMIM:219800
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Second degree atrioventricular block, Hypomagne... ORPHA:79102
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Short foot, Brachydactyly, Neutrophilia OMIM:266265
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Pedal edema OMIM:152800
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Decreased calvarial ossifica... OMIM:617925
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Incr... ORPHA:98849
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ab... ORPHA:86839
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia OMIM:605911
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... ORPHA:198
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia OMIM:620443
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Raine Syndrome
Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Hypophosphatemia, Subperiosteal ... OMIM:259775
Stiff-Person Syndrome
Hypertension, Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Diabetes mellitus OMIM:184850
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Clinodactyly of the 5th finger, Hypoproteinemia ORPHA:1116
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... ORPHA:3337
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive prote... ORPHA:36238
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Neutrophilia, Elevated circulating... OMIM:612852
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Pearson Syndrome
Glycosuria, Cardiomyopathy, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenome... ORPHA:699
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia,... ORPHA:247353
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Tricuspid ... OMIM:263520
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia OMIM:600740
Ataxia-Telangiectasia
Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Abnormal B... OMIM:208900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Schimke Immunoosseous Dysplasia
Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Lymphopenia, ... OMIM:242900
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Cerebral vasculitis, Pure red cell aplasia, Lymphopenia, Autoimmune hemolytic anemi... OMIM:613179
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Abnormal proportion of naive CD4 T cells, Congestive heart failure, Ly... ORPHA:1830
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Female infertility, Genu valgum,... ORPHA:91
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... OMIM:250250
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Thrombocytopenia, Monoc... OMIM:619644
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Oculocerebrorenal Syndrome Of Lowe
Hip dislocation, Abnormal epiphysis morphology, Osteomalacia, Joint stiffness, Micrognathia, Genu... ORPHA:534
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... OMIM:618150
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Reactive hypoglycemia, Hyperuricemia ORPHA:469
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Hypertriglyceridemia OMIM:617575
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... ORPHA:2634
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Infantile Nephropathic Cystinosis
Rickets, Glycosuria, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration ORPHA:411629
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Tachycardia, Shock, Elevated circulating crea... ORPHA:99826
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia OMIM:620365
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... OMIM:274000
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Intracra... ORPHA:3226
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Increased susceptibility to fr... OMIM:619752
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... OMIM:600002
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Eosinophilia, Nar... OMIM:617425
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Tricuspid regurgita... ORPHA:508542
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto... ORPHA:829
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Decreased/absent an... ORPHA:443811
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Oligoarthritis, Leukocytosis, Neutrophilia OMIM:614204
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Ankle clonus, Thrombocytopenia, Exaggerated startle... OMIM:620423
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fibular hypop... OMIM:164900
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia ORPHA:1302
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Glycine Encephalopathy With Normal Serum Glycine
Genu recurvatum, Hand clenching, Elbow flexion contracture, Overlapping toe, Hip contracture, Joi... OMIM:617301
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Joint stiffness, Telangiectasia, Anemia, Raynaud phenomenon, Thrombocyto... OMIM:615934
Spondyloenchondrodysplasia With Immune Dysregulation
Rheumatoid arthritis, Short iliac bones, Lymphopenia, Sclerosis of skull base, Metaphyseal sclero... OMIM:607944
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Micrognathia, Eosinophilia, Im... OMIM:617237
Avian Influenza
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulating creatine... ORPHA:454836
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Neutrophilia, Elevated ci... OMIM:617099
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Lujo Hemorrhagic Fever
Hypotension, Resting tremor, Stiff neck, Lymphopenia, Leukopenia, Shock, Leukocytosis, Myocarditi... ORPHA:319213
Alport Syndrome 3A, Autosomal Dominant
Hypertension, Hypophosphatemia, Azotemia OMIM:104200
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... OMIM:108720
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrhythmia, Abnor... ORPHA:906
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotro... OMIM:227650
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypopho... OMIM:229600
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Elevated circulating creatin... ORPHA:85450
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ... OMIM:208500
Campomelic Dysplasia
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Micrognathia... ORPHA:140
Fibrochondrogenesis 1
Hypoplastic ischia, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Rhizomelia, ... OMIM:228520
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... ORPHA:54251
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Anemia, Acute myeloid leukemia,... ORPHA:3243
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Type I diabetes mellitus, Dilated cardiomyopathy, Lymphopenia, Pancytopenia, Hepatosp... OMIM:615688
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... ORPHA:958
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hepatosplenomegaly, Broad long bone diaphyses, Acetabular dysplasia, Hypoplastic ... ORPHA:79255
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Absent Achilles reflex, Pes cavus, Ankle clonus, Exaggerated startle response, Flexion contracture OMIM:609541
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis, Hypophosphatemia, Hypercalcemia, Shortened QT interval ORPHA:99880
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Limited elbow extension, Tremor, Ankle c... ORPHA:845
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Arthr... OMIM:617591
Parathyroid Carcinoma
Osteoporosis, Hypophosphatemia, Hypercalcemia, Shortened QT interval ORPHA:143
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerat... OMIM:608643
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Calf muscle hypertrop... OMIM:253800
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Neutrophilia, Myeloproliferative... ORPHA:3260
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Orchitis, Elevated circulating amyloid A concentration, Neutrophilia,... OMIM:249100
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hem... OMIM:620565
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Abnormal metaphysis morphology, Long fibula, Anemia, Reduced bone mineral density ORPHA:935
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
Plaa-Associated Neurodevelopmental Disorder
Postaxial foot polydactyly, Contractures of the large joints, Micrognathia, Long fingers, Exagger... ORPHA:521426
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Cushing Disease
Secondary amenorrhea, Lymphopenia, Capillary fragility, Leukocytosis, Hypertension, Fatiguable we... ORPHA:96253
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Pes cavus, Hyporeflexia of lower limbs, Multiple joint contractures, Exaggerated startle response ORPHA:320406
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Type I diabetes mellitus, Congestive heart failure, Lymphopenia, Hepatosplenomegaly, ... ORPHA:391487
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Diabetes mellitus ORPHA:676
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Mitral regu... OMIM:612541
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response ORPHA:309155
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia... OMIM:127550
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Hypoglycemia, Exaggerated startle response OMIM:620451
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Sandhoff Disease
Hepatosplenomegaly, Impotence, Orthostatic hypotension, Exaggerated startle response OMIM:268800
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Micrognathia... OMIM:200980
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Tibial Hemimelia
Absent tibia OMIM:275220
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino... OMIM:236680
Stiff Person Spectrum Disorder
Diabetes mellitus, Exaggerated startle response ORPHA:3198
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia, Exaggerated startle response OMIM:608800
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Ankle clonus, Exaggerated startle response OMIM:618598
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Auto... ORPHA:3261
Bloom Syndrome
Insulin resistance, Azoospermia, Micrognathia, Abscess, Decreased proportion of CD4-positive T ce... ORPHA:125
Yellow Fever
Shock, Elevated circulating creatinine concentration, Reduced left ventricular ejection fraction,... ORPHA:99829
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Micrognathia, Postaxial polydactyly, Palmoplantar hyperhidrosis... OMIM:617527
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Clinodactyly of the 5th finger, Tremor, Exaggerated startle response OMIM:618056
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Abnormal pelvic girdle bone morphology, Growth arrest lines, Lymphopenia, Autoimmune hemolytic an... OMIM:102700
Asparagine Synthetase Deficiency
Hypoasparaginemia, Long foot, Micrognathia, Tremor, Large hands, Exaggerated startle response OMIM:615574
Charge Syndrome
Bifid femur, Short thumb, Lymphopenia, Micrognathia, Hypocalcemia, Down-sloping shoulders, Hypogo... OMIM:214800
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Goodpasture Syndrome
Anemia, Pulmonary hemorrhage, Increased blood urea nitrogen OMIM:233450
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Exaggerated startle response OMIM:616881
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Lymphopenia, Decreased CD4:CD8 ratio... OMIM:619573
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Decreased fertility, Decreased circulating renin level... ORPHA:90793
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
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Hyperekplexia 1
Hip dislocation, Exaggerated startle response OMIM:149400
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia ORPHA:293173
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Sclerosis of skull ba... OMIM:300373
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope... OMIM:301000
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Lymphopenia, Hyperbilirubinemia, Splenomegaly... OMIM:613471
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 Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Kinsship Syndrome
Osteopenia, Micrognathia, Fibular hypoplasia, Polydactyly, Coxa valga, Pes planus, Dislocated rad... OMIM:619297
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Camptodactyly of finger, Preaxial... ORPHA:2753
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Osteopenia, Joint hypermobility, Exaggerated startle re... ORPHA:438213
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Cushing Syndrome Due To Ectopic Acth Secretion
Secondary amenorrhea, Lymphopenia, Capillary fragility, Leukocytosis, Hypertension, Fatiguable we... ORPHA:99889
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Tapered finger, Short femur, Short humerus, Exaggerated startle response OMIM:618367
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Tracheomalacia, Hypoplasia of proximal radius, Congestive heart failure, Hyperglycemi... ORPHA:444077
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Short thumb, Short finger, Joint hypermobility, Chordee, Broad toe, Exaggerated... 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 dysplasia Pou2af3tm1b(NCOM)Mfgc HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Pou2af3tm1b(NCOM)Mfgc HOM Early adult
Epididymis - MPATH pathological process term hypospermia Pou2af3tm1b(NCOM)Mfgc HOM Early adult
Small intestine - MPATH pathological process term inflammation 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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