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Gene: Prg4 MGI:1891344

Gene Summary

Name:

proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein)

Synonyms:

SZP, MSF, lubricin, DOL54

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased anxiety-related response	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	1.83×10^-07
decreased locomotor activity	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	2.20×10^-07
decreased exploration in new environment	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	3.07×10^-06
abnormal joint morphology	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	7.43×10^-10
decreased body weight	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	8.11×10^-07
decreased grip strength	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	1.34×10^-23
increased circulating potassium level	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	9.11×10^-06
abnormal skin morphology	Prg4^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Prg4 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.

Human diseases associated with Prg4 (2 diseases)
Human diseases predicted to be associated with Prg4 (454 diseases)

The table below shows human diseases associated to Prg4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome		Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Coxa var...	OMIM:208250
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome		Wrist swelling, Camptodactyly of finger, Coxa vara, Short femoral neck, Flattened femoral head, C...	ORPHA:2848

The table below shows human diseases predicted to be associated to Prg4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Arthrogryposis, Distal, Type 10	Camptodactyly of finger, Wrist flexion contracture, Plantar flexion contracture, Distal arthrogry...	OMIM:187370
Arthrogryposis, Congenital, Lower Limb, X-Linked	Knee flexion contracture, Hip contracture, Gait disturbance, Ankle flexion contracture, Arthrogry...	OMIM:300158
Osteochondritis Dissecans	Limited elbow flexion, Abnormality of the knee, Quadriceps muscle atrophy, Decreased hip abductio...	ORPHA:2764
Panner Disease	Large elbow, Elbow pain, Limited elbow movement, Abnormality of the humerus, Abnormality of upper...	ORPHA:97336
Osgood-Schlatter Disease	Knee pain, Shuffling gait, Abnormal patella morphology, Limited knee extension, Large knee, Diffi...	ORPHA:97335
Intermittent Hydrarthrosis	Abnormality of the knee, Knee joint hypermobility, Chondrocalcinosis, Joint swelling	ORPHA:329967
Sinding-Larsen-Johansson Disease	Knee pain, Joint swelling, Limitation of knee mobility, Painless fractures due to injury, Osteoch...	ORPHA:97337
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint mobility, Joint swe...	ORPHA:1416
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Arthropathy, Enlar...	OMIM:208230
Arthrogryposis, Distal, Type 1B	Distal arthrogryposis, Foot joint contracture, Joint contracture of the hand, Talipes equinovarus...	OMIM:614335
Genochondromatosis Type 1	Multiple enchondromatosis, Abnormality of the knee	ORPHA:85197
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Abnormality of limb bone morpho...	ORPHA:85435
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome	Camptodactyly of finger, Abnormality of lower limb joint	ORPHA:85164
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Synovial hypertrophy, Abnormality of the elbow, Lymphedema, Abnormal hip...	ORPHA:66627
Popliteal Cyst	Abnormality of the knee, Joint swelling	OMIM:175750
Mosaic Trisomy 15	Camptodactyly of finger, Deviation of finger, Abnormality of the hand	ORPHA:1706
Cranio-Osteoarthropathy	Abnormality of the knee, Arthritis, Clubbing of toes, Abnormality of tibia morphology, Joint swel...	ORPHA:1525
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Polyarticular arthropathy, General...	ORPHA:1159
Camptodactyly 1	Camptodactyly of finger, Knee dislocation, Joint subluxation	OMIM:114200
Osteochondrosis Of The Tarsal Bone	Antalgic gait, Pedal edema, Avascular necrosis, Tarsal sclerosis, Juvenile aseptic necrosis, Foot...	ORPHA:563991
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation, Avascular necrosis, Skeletal muscle atrophy, Delayed sk...	ORPHA:2380
Syndactyly Type 2	Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S...	ORPHA:93403
Arthrogryposis, Distal, Type 2B2	Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca...	OMIM:618435
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Joint ...	ORPHA:668
Digitotalar Dysmorphism	Camptodactyly of finger, Ulnar deviation of finger, Rocker bottom foot	OMIM:126050
Hemochromatosis Type 4	Joint dislocation, Joint swelling, Limitation of joint mobility	ORPHA:139491
Corpus Callosum, Agenesis Of	Camptodactyly, Joint contracture of the hand	OMIM:217990
Synpolydactyly 1	Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl...	OMIM:186000
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Camptodactyly, Metatarsus adductus, Absent proximal finger flexion creases, ...	OMIM:620019
Farber Lipogranulomatosis	Osteolytic defects of the phalanges of the hand, Osteolysis involving bones of the feet, Hyperext...	OMIM:228000
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metatarsal synostosis, Cl...	ORPHA:93406
Rheumatoid Arthritis	Rheumatoid arthritis, Swan neck-like deformities of the fingers, Digital flexor tenosynovitis, Po...	OMIM:180300
Syndactyly Type 3	Camptodactyly of finger, Short toe, Finger syndactyly	ORPHA:93404
Wahab Syndrome	Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Ankylosis, Adducted thumb, Syndactyly,...	OMIM:615170
Metachondromatosis	Multiple enchondromatosis, Abnormal joint morphology	OMIM:156250
Autosomal Recessive Spastic Paraplegia Type 45	Knee flexion contracture, Spastic gait, Ankle flexion contracture, Flexion contracture of toe	ORPHA:320396
Multiple Epiphyseal Dysplasia Type 1	Genu varum, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysis, Finger j...	ORPHA:93308
Juvenile Idiopathic Arthritis	Joint dislocation, Cartilage destruction, Pericardial effusion, Arthritis, Joint swelling, Abnorm...	ORPHA:92
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Flattened femoral head, Increased bone mineral density, Stiff knee, Limb pain...	ORPHA:93284
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Wrist flexion contracture, Congenital finger flexion contractures, Synovial hypertrophy, Coxa var...	OMIM:208250
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Distal Arthrogryposis Type 1	Camptodactyly of finger, Ulnar deviation of finger, Joint stiffness, Adducted thumb, Overlapping ...	ORPHA:1146
Majeed Syndrome	Flexion contracture, Osteomyelitis, Delayed skeletal maturation, Joint swelling, Bone pain	OMIM:609628
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f...	OMIM:225280
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Oligoarthritis, Flexion contracture, Synovial hypertrophy, Hip osteoarthritis, Enthesitis, Arthri...	ORPHA:85408
Syndactyly Type 4	Camptodactyly of finger, Triphalangeal thumb, Short tibia, Foot polydactyly, Toe syndactyly, Hand...	ORPHA:93405
Familial Afibrinogenemia	Joint swelling	ORPHA:98880
Moderate Hemophilia A	Cartilage destruction, Hip contracture, Arthropathy, Synovitis, Limitation of joint mobility, Joi...	ORPHA:169805
Syndactyly, Type V	Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos...	OMIM:186300
Coloboma Of Macula-Brachydactyly Type B Syndrome	Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly	ORPHA:1471
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Camptodactyly, Short thumb, Clinodactyly of the 5th finger	OMIM:618453
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Tip-toe g...	ORPHA:267
Masa Syndrome	Camptodactyly of finger, Hand clenching, Clinodactyly of the 5th finger, Gait disturbance	ORPHA:2466
Hemophilia A	Joint swelling, Intramuscular hematoma, Abnormality of the elbow, Joint hemorrhage	ORPHA:98878
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
Brachydactyly, Type B1	Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th...	OMIM:113000
Ectrodactyly-Polydactyly Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab...	ORPHA:1892
Arthrogryposis, Distal, Type 1A	Knee flexion contracture, Hand clenching, Hip contracture, Ulnar deviation of the hand or of fing...	OMIM:108120
Epidermolytic Palmoplantar Keratoderma	Camptodactyly, Palmoplantar hyperkeratosis, Clubbing, Diffuse palmoplantar hyperkeratosis, Palmar...	ORPHA:2199
Brachydactyly-Syndactyly Syndrome	Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,...	OMIM:610713
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Multiple lipomas, Limitation of joint mobility, Skeletal muscle atrophy,...	ORPHA:3294
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Joint contracture of the hand, Dermatoglyphic ridges abnormal, Camptodactyly, Small hypothenar em...	OMIM:211960
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Knee flexion contracture, Distal arthrogryposis, Flexion contracture, Hip contracture, Elbow flex...	OMIM:617468
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Joint swelling, Juvenile rheumatoid arthritis	ORPHA:85414
Proximal Symphalangism	Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno...	ORPHA:3250
Severe Hemophilia A	Synovitis, Limitation of joint mobility, Progressive joint destruction, Joint swelling, Limb join...	ORPHA:169802
Huntington Disease-Like 2	Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, ...	OMIM:606438
Stiff Skin Syndrome	Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Limited shoulder movement, Li...	OMIM:184900
Wilson Disease	Arthritis, Abnormality of the hand, Joint swelling, Difficulty walking, Proximal muscle weakness ...	ORPHA:905
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Camptodactyly of finger, Flexion contracture of toe, Gait ataxia	OMIM:619323
Congenital Myopathy 15	Polyhydramnios, Increased variability in muscle fiber diameter, Fatty replacement of skeletal mus...	OMIM:620161
Alkaptonuria	Joint dislocation, Thickened Achilles tendon, Cartilage destruction, Arthritis, Calcification of ...	ORPHA:56
Chromosome 20Q11-Q12 Deletion Syndrome	Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly	OMIM:614257
Arthrogryposis, Impaired Intellectual Development, And Seizures	Camptodactyly of finger, Hip dislocation, Acetabular dysplasia, Knee dislocation, Arthrogryposis ...	OMIM:615553
Arthrogryposis, Distal, Type 1C	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Hip contracture, El...	OMIM:619110
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis, Brachydactyly	ORPHA:1937
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas	Joint swelling	OMIM:127820
Hyperchlorhidrosis, Isolated	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:143860
Adult-Onset Still Disease	Arthritis, Cartilage destruction, Joint swelling	ORPHA:829
Camptodactyly-Taurinuria Syndrome	Camptodactyly of finger, Camptodactyly of toe	ORPHA:1325
Pseudoleprechaunism Syndrome, Patterson Type	Genu valgum, Palmoplantar cutis laxa, Metaphyseal sclerosis, Flat acetabular roof, Abnormal limb ...	ORPHA:2976
Spastic Paraplegia 20, Autosomal Recessive	Ankle clonus, Flexion contracture, Lower limb muscle weakness, Spastic gait, Clinodactyly, Campto...	OMIM:275900
Leri Pleonosteosis	Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Gait disturb...	ORPHA:2900
Lyme Disease	Arthritis, Joint swelling	ORPHA:91546
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Camptodactyly, Adducted thumb, Overlapping fingers, Ulnar deviation of the hand, T...	OMIM:618436
Ulnar Hemimelia	Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones, Abnormal 3rd metac...	ORPHA:93320
Pachydermoperiostosis	Genu varum, Avascular necrosis, Osteomyelitis, Small hand, Arthritis, Clubbing of toes, Limitatio...	ORPHA:2796
Blau Syndrome	Camptodactyly of finger, Arthritis, Synovitis, Tendonitis, Cystoid macular edema, Joint swelling,...	OMIM:186580
20Q11.2 Microdeletion Syndrome	Adducted thumb, Finger clinodactyly, Camptodactyly, Brachydactyly	ORPHA:444051
Sillence Syndrome	Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ...	ORPHA:3168
Hyperekplexia 4	Distal arthrogryposis, Flexion contracture, Talipes equinovarus, Camptodactyly, Adducted thumb, I...	OMIM:618011
Aphalangy-Syndactyly-Microcephaly Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor...	ORPHA:1113
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Dumbbell-shaped humerus, Abnormality of the humerus, Synostosis of carpa...	ORPHA:1836
Symptomatic Form Of Hemochromatosis Type 1	Decreased muscle mass, Arthropathy, Stiff interphalangeal joints, Arthritis, Joint swelling, Join...	ORPHA:465508
Farber Disease	Short toe, Abnormality of the knee, Hydrops fetalis, Flexion contracture, Abnormality of the elbo...	ORPHA:333
Multiple Epiphyseal Dysplasia Type 5	Genu varum, Genu valgum, Knee pain, Avascular necrosis of the capital femoral epiphysis, Decrease...	ORPHA:93311
Aase-Smith Syndrome	Camptodactyly of finger, Multiple joint contractures, Joint stiffness, Aplasia/Hypoplasia of the ...	ORPHA:916
Whistling Face Syndrome, Recessive Form	Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Ulnar deviation of finger, Sh...	OMIM:277720
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Camptodactyly, Joint contracture of the hand, Overlapping fingers	OMIM:601016
Martsolf Syndrome 2	Camptodactyly of finger, Camptodactyly, Overlapping toe	OMIM:619420
Fetal Akinesia Deformation Sequence 4	Polyhydramnios, Camptodactyly, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Rocke...	OMIM:618393
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Abnormal metacarpal morphology, Elbow dislocation, Abnormal metaphysis m...	ORPHA:2631
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi...	OMIM:612576
Emery-Nelson Syndrome	Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac...	ORPHA:1927
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Inappropriate behavior, Frontotemporal dementia, Inertia, Falls, Shuffling gait, Motor deteriorat...	ORPHA:412066
Limb-Mammary Syndrome	Hallux valgus, Joint contracture of the hand, Camptodactyly, Syndactyly, Split foot, Split hand	OMIM:603543
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Fused cervical vertebrae, Osteolysis, Osteopenia, Joint swelling	OMIM:612852
Autosomal Recessive Spastic Paraplegia Type 18	Knee flexion contracture, Ankle clonus, Hip contracture, Flexion contracture, Inability to walk, ...	ORPHA:209951
Spondylocamptodactyly Syndrome	Camptodactyly of finger	ORPHA:3180
Keipert Syndrome	Clinodactyly, Camptodactyly, Joint laxity, Broad hallux, Broad thumb, Brachydactyly, Broad distal...	OMIM:301026
Perching Syndrome	Joint contracture, Camptodactyly	OMIM:617055
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wrist swelling, Polyhydramnios, Camptodactyly of finger, Slender long bone, Abnormality of the wr...	ORPHA:2774
Arthrogryposis, Distal, Type 4	Distal arthrogryposis, Tibial deviation of toes, 2-5 finger cutaneous syndactyly, Fibular deviati...	OMIM:609128
Erdheim-Chester Disease	Avascular necrosis, Osteomyelitis, Increased bone mineral density, Ataxia, Pleural effusion, Oste...	ORPHA:35687
Myasthenic Syndrome, Congenital, 24, Presynaptic	Knee flexion contracture, Distal arthrogryposis, Camptodactyly, Talipes equinovarus	OMIM:618198
Contractural Arachnodactyly, Congenital	Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Arac...	OMIM:121050
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal irregularity, Metaphyseal sclerosis, Rheumatoid arthritis, Juvenile rheumatoid arthri...	OMIM:607944
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 5th toe, Patellar hypoplasia, Short 3rd toe, Hip dislocation, Shor...	ORPHA:1326
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio...	ORPHA:2741
Reactive Arthritis	Cartilage destruction, Osteomyelitis, Enthesitis, Arthritis, Joint swelling, Joint stiffness	ORPHA:29207
Mixed Connective Tissue Disease	Avascular necrosis, Arthritis, Myositis, Osteolysis, Joint swelling, Xerostomia, Joint stiffness	ORPHA:809
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Ulnar deviation of finger, Gait disturbance, Abnormal pelvic girdle bone...	ORPHA:2928
Arthrogryposis, Distal, Type 2A	Wrist flexion contracture, Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand,...	OMIM:193700
Partington Syndrome	Flexion contracture, Camptodactyly	OMIM:309510
Bethlem Myopathy	Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract...	ORPHA:610
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lipodystrophy, Joint swelling, Panniculitis	OMIM:617099
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Cubitus valgus, Camptodactyly, Down-sloping shoulders	OMIM:619694
Moebius Syndrome	Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Dysdi...	OMIM:157900
Joubert Syndrome 18	Talipes equinovarus, Camptodactyly, Joint laxity, Trident pelvis, Bowing of the long bones, Posta...	OMIM:614815
Dyggve-Melchior-Clausen Disease	Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus, Hypoplastic...	OMIM:223800
Monosomy 22	Contractures of the large joints, Finger syndactyly, Clinodactyly of the 5th finger, Clubbing, Si...	ORPHA:96123
Mesomelic Dysplasia, Nievergelt Type	Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra...	ORPHA:2633
Congenital Myopathy 12	Polyhydramnios, Joint contracture of the hand, Akinesia, Camptodactyly, Overlapping fingers, Arac...	OMIM:612540
Frontonasal Dysplasia 1	Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Clinodactyly, Camptodactyly, R...	OMIM:136760
Greig Cephalopolysyndactyly Syndrome	Delayed cranial suture closure, Preaxial hand polydactyly, Joint contracture of the hand, Preaxia...	OMIM:175700
Multiple Epiphyseal Dysplasia Type 4	Flexion contracture, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis, Premature ost...	ORPHA:93307
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Joint dislocation, Multiple joint dislocation	OMIM:245650
Posterior Column Ataxia With Retinitis Pigmentosa	Joint contracture of the hand, Camptodactyly, Ataxia, Flexion contracture of finger, Skeletal mus...	OMIM:609033
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Atrophic scars, Camptodactyly, Joint laxity, Adducted thumb, Inguinal hernia, Facial hypotonia, A...	OMIM:615539
Catifa Syndrome	Inguinal hernia, Camptodactyly, Gait disturbance	OMIM:618761
Acropectorovertebral Dysplasia	Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broa...	ORPHA:957
Pseudodiastrophic Dysplasia	Camptodactyly, Phalangeal dislocation, Talipes equinovarus, Elbow dislocation	OMIM:264180
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Coxa valga, Second metatarsal posteriorly placed, ...	OMIM:214150
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Camptodactyly of finger, Coxa vara, Short femoral neck, Flattened femoral head, C...	ORPHA:2848
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Limited elbow movement, Elbow flexion contracture, Camptodactyly, Limited ...	OMIM:615065
Corticosterone Methyloxidase Type Ii Deficiency	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:610600
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:203400
Congenital Disorder Of Glycosylation, Type Ie	Knee flexion contracture, Upper limb undergrowth, Small hand, Muscular dystrophy, Camptodactyly, ...	OMIM:608799
Systemic Sclerosis	Osteolytic defects of the phalanges of the hand, Finger swelling, Flexion contracture, Osteomyeli...	ORPHA:90291
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, ...	ORPHA:88630
Carpenter Syndrome 1	Coxa valga, Lateral displacement of patellae, Toe syndactyly, Flared iliac wing, Camptodactyly, M...	OMIM:201000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl...	OMIM:178110
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Camptodactyly, Avascular necrosis of the capital femoral epiphysis, Arthrogrypos...	OMIM:614262
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Flexion contracture, Lower limb muscle weakness, Inability to walk, Hip dysplasia, Camptodactyly,...	OMIM:617146
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Camptodactyly, Short long bone	OMIM:619751
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Dysplastic patella, Hip dislocat...	OMIM:265000
Camptobrachydactyly	Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna...	ORPHA:1319
W Syndrome	Radial bowing, Clinodactyly, Camptodactyly, Hypoplasia of the ulna, Metatarsus adductus, Elbow di...	ORPHA:2804
Fibrochondrogenesis 1	Omphalocele, Hydrops fetalis, Dumbbell-shaped long bone, Short foot, Joint contracture of the han...	OMIM:228520
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Knee flexion contracture, Hip contracture, Elbow flexion contracture, Camptodactyly, Metatarsus a...	OMIM:616266
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Limited elbow movement, Joint contracture of the hand, Dislocation of toes, Campto...	OMIM:300280
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Camptodact...	OMIM:224400
Chikungunya	Pedal edema, Knee pain, Stiff interphalangeal joints, Arthritis, Enthesitis, Synovitis, Ankle joi...	ORPHA:324625
Schaaf-Yang Syndrome	Flexion contracture, Tapered finger, Small hand, Inability to walk, Clinodactyly, Camptodactyly, ...	OMIM:615547
Imagawa-Matsumoto Syndrome	Accelerated skeletal maturation, Camptodactyly, Clinodactyly, Large hands, Umbilical hernia	OMIM:618786
Terminal Osseous Dysplasia	Camptodactyly of finger, Short toe, Multiple joint contractures, Camptodactyly of toe, Clinodacty...	OMIM:300244
Warburg-Cinotti Syndrome	Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Elbow flexion contrac...	OMIM:618175
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Knee flexion contracture, Tapered finger, Finger syndactyly, Camptodactyly, Single transverse pal...	ORPHA:435938
Crisponi/Cold-Induced Sweating Syndrome 1	Tapered finger, Elbow flexion contracture, Camptodactyly, Adducted thumb, Radial deviation of fin...	OMIM:272430
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:264350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Genu valgum, Joint dislocation, Short 4th metacarpal, Metaphyseal irreg...	OMIM:618019
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly, Osteoporosis, Lymphedema	OMIM:616006
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Short toe, Joint dislocation, Tapered finger, Short 4th metacarpal, Apla...	ORPHA:3201
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Flexion contracture...	OMIM:610758
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Delayed closure of the anterior fontanelle, Metacarpal osteolysis, Thi...	OMIM:259600
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Gait ataxia, Osteomyelitis, Camptodactyly, Gait disturbance, Ataxia, Flexion contracture of finger	ORPHA:88628
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556037
Atelosteogenesis Type Ii	Short phalanx of finger, Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand, E...	ORPHA:56304
Stuve-Wiedemann Syndrome 1	Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod...	OMIM:601559
Arthrogryposis, Distal, Type 3	Camptodactyly of finger, Short phalanx of finger, Knee flexion contracture, Decreased muscle mass...	OMIM:114300
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop...	OMIM:617072
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Classical Ehlers-Danlos Syndrome	Shoulder dislocation, Blepharochalasis, Patellar dislocation, Generalized joint laxity, Incisiona...	ORPHA:287
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive 20	Inability to walk, Clinodactyly, Camptodactyly, Macroglossia, Ataxia, Brachydactyly, Talipes equi...	OMIM:616354
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556030
Wieacker-Wolff Syndrome	Congenital foot contractures, Camptodactyly, Hip dislocation, Palmar hyperkeratosis, Proximal pla...	OMIM:314580
Idiopathic Hypereosinophilic Syndrome	Arthritis, Clubbing, Pleural effusion, Ankle swelling, Skeletal muscle atrophy, Joint swelling, A...	ORPHA:3260
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Flexion contracture, Wide anterior fontanel, Humeroradial synostosis, Coronal craniosynostosis, N...	OMIM:207410
Hyperkalemic Periodic Paralysis	Hypokalemia, Gait disturbance, Hyperkalemia, Elevated circulating creatine kinase concentration, ...	ORPHA:682
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Split-Hand/Foot Malformation 3	Camptodactyly, Split hand	OMIM:246560
Generalized Pseudohypoaldosteronism Type 1	Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive in ...	ORPHA:171876
Weaver Syndrome	Coxa valga, Camptodactyly, Metatarsus adductus, Overlapping toe, Radial deviation of finger, Limi...	OMIM:277590
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Flexion contracture, Tapered finger, Reduced subcutaneous adipose tissue, Elbow ...	OMIM:619503
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Wrist flexion contracture, Polyhydramnios, Flexion contracture, Diastasis recti, Camptodactyly, M...	ORPHA:254528
Mandibuloacral Dysplasia With Type A Lipodystrophy	Delayed cranial suture closure, Increased facial adipose tissue, Flexion contracture, Coxa valga,...	OMIM:248370
Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Lethargy	ORPHA:427
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyperkalemia, Hyponatremia	OMIM:614736
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Toe syndactyly, Clinodactyly of the 5th finger, Abn...	ORPHA:3409
Oculocerebrorenal Syndrome Of Lowe	Genu valgum, Patellar dislocation, Recurrent fractures, Abnormal metaphysis morphology, Osteomala...	ORPHA:534
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Coxa valga, Delayed skeletal maturation, Skeletal muscle hypertrophy, ...	OMIM:255800
Acromegaly	Tapered finger, Macroglossia, Palpebral edema, Joint swelling, Cortical diaphyseal thickening of ...	ORPHA:963
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Somatomammotropinoma	Tapered finger, Macroglossia, Palpebral edema, Joint swelling, Cortical diaphyseal thickening of ...	ORPHA:314769
Alg8-Cdg	Hydrops fetalis, Abnormality of subcutaneous fat tissue, Camptodactyly, Macroglossia, Ataxia, Oli...	ORPHA:79325
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Camptodactyly, Metatarsus adductus, Single transverse palmar creas...	OMIM:214110
Recombinant Chromosome 8 Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Joint contracture of the hand	OMIM:179613
Cousin Syndrome	Hypoplastic iliac wing, Wrist flexion contracture, 2-3 toe syndactyly, Hypoplastic pubic bone, Jo...	OMIM:260660
Birk-Landau-Perez Syndrome	Choreoathetosis, Limb ataxia, Hyperkalemia, Difficulty walking, Increased circulating creatine ki...	OMIM:617595
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Camptobrachydactyly	Congenital finger flexion contractures, Short toe, Hand polydactyly, Syndactyly, Brachydactyly	OMIM:114150
Hypoadrenocorticism, Familial	Hyperkalemia, Hyponatremia	OMIM:240200
Sandestig-Stefanova Syndrome	Clinodactyly, Camptodactyly, Bilateral single transverse palmar creases, Prominent metopic ridge,...	OMIM:618804
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Renal Hypoplasia, Bilateral	Small for gestational age, Hyperkalemia, Failure to thrive, Hyponatremia, Lethargy	ORPHA:97362
Alkuraya-Kucinskas Syndrome	Hand clenching, Pericardial effusion, Clinodactyly, Camptodactyly, Pleural effusion, Edema, Overl...	OMIM:617822
Blau Syndrome	Camptodactyly of finger, Synovitis, Limitation of joint mobility, Polyarticular arthritis, Xerost...	ORPHA:90340
Ritscher-Schinzel Syndrome 2	Clinodactyly, Camptodactyly, Overlapping toe, Broad hallux, Syndactyly, Short distal phalanx of f...	OMIM:300963
Stevenson-Carey Syndrome	Hip dysplasia, Camptodactyly, Joint contracture of the hand	OMIM:611961
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Meier-Gorlin Syndrome 1	Flexion contracture, Coxa valga, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Abs...	OMIM:224690
Marden-Walker Syndrome	Decreased muscle mass, Wide anterior fontanel, Joint contracture of the hand, Camptodactyly, Radi...	OMIM:248700
Arthrogryposis Multiplex Congenita 5	Polyhydramnios, Hand clenching, Flexion contracture, Akinesia, Elbow flexion contracture, Hip dis...	OMIM:618947
Van Maldergem Syndrome 1	Short 4th metacarpal, Wide anterior fontanel, Cutaneous finger syndactyly, Clinodactyly, Camptoda...	OMIM:601390
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Clinodactyly, Camptodactyly, Brachydactyly	OMIM:613604
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Camptodactyly, Joint contracture of the hand	OMIM:608257
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoplastic iliac wing, Short foot, Joint contracture of the hand, Lymphedema, Pericardial effusi...	OMIM:235510
Dpm1-Cdg	Knee flexion contracture, Muscular dystrophy, Long hallux, Camptodactyly, Ataxia, Sandal gap	ORPHA:79322
Bohring-Opitz Syndrome	Polyhydramnios, Short toe, Joint dislocation, Flexion contracture, Tapered finger, Ulnar deviatio...	OMIM:605039
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join...	OMIM:231070
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Camptodactyly, Talipes equinovarus	OMIM:617333
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Camptodactyly, Postaxial foot polydactyly, Postaxial hand polydactyl...	OMIM:614175
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Camptodactyly, Macroglossia, Ataxia, Syndactyly, Abnormality of the hand, Arthrogry...	ORPHA:369891
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Coxa valga, Flared iliac wing, Hip dislocation, Camptodactyly, Arthrogryposis mu...	OMIM:252500
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia, Difficulty walking, Hypocalcemia	ORPHA:99845
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Tapered finger, Inability to walk, Clinodactyly, Camptodactyly, Ataxia, Dysmetria	OMIM:619576
Camptodactyly Syndrome, Guadalajara, Type Iii	Absent phalangeal crease, Joint contracture of the hand, Torticollis, Camptodactyly, Small hypoth...	OMIM:611929
Congenital Disorder Of Glycosylation, Type Iig	Broad femoral neck, Short foot, Small hand, Short long bone, Left ventricular hypertrophy, Campto...	OMIM:611209
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu valgum, Wide anterior fontanel, Joint contracture of the hand, Minimal subcutaneous fat, Tal...	OMIM:182212
Hunter-Macdonald Syndrome	Delayed cranial suture closure, 2-3 toe syndactyly, Pseudoepiphyses, Joint contracture of the han...	OMIM:611962
Brittle Cornea Syndrome	Increased susceptibility to fractures, Hernia, Hallux valgus, Hip dysplasia, Corneal scarring, Ca...	ORPHA:90354
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Camptodactyly, Macroglossia, Ataxia, Palpebral edema, Brachydactyly, Broad-based ga...	ORPHA:397709
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Hyponatremia, Lethargy	ORPHA:199299
Rahman Syndrome	Accelerated skeletal maturation, Camptodactyly, Talipes equinovarus	OMIM:617537
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Abno...	ORPHA:95699
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Hyperchloremia, Hyperkalemia	OMIM:614492
Congenital Disorder Of Glycosylation, Type Ih	Camptodactyly, Oligohydramnios, Edema, Ascites, Talipes equinovarus	OMIM:608104
Meier-Gorlin Syndrome 2	Patellar aplasia, Slender long bone, Camptodactyly, Joint hypermobility, Delayed skeletal maturat...	OMIM:613800
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Flexion contracture, Camptodactyly, Rocker bottom foot	OMIM:604273
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Slender long bone, Clinodactyly, Camptodactyly, Single transverse palmar crease, D...	OMIM:613385
13Q12.3 Microdeletion Syndrome	Upper eyelid edema, Camptodactyly, Congenital diaphragmatic hernia, Hip dysplasia	ORPHA:412035
Apparent Mineralocorticoid Excess	Small for gestational age, Failure to thrive, Hypokalemia, Decreased circulating renin level	OMIM:218030
Braddock-Carey Syndrome 1	Enamel hypoplasia, Small hand, Clinodactyly, Camptodactyly, Talipes equinovarus	OMIM:619980
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hypokalemia, Lethargy	OMIM:611590
Basilicata-Akhtar Syndrome	Short foot, Camptodactyly, Adducted thumb, Single transverse palmar crease, Short palm	OMIM:301032
Congenital Isolated Acth Deficiency	Hyperkalemia, Hyponatremia	ORPHA:199296
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia, Self-biting	OMIM:618314
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Small hand, Camptodactyly, Inguinal hernia, Bilateral single transvers...	ORPHA:459061
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Elevated circulating creatine kinase con...	ORPHA:94093
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Opitz-Kaveggia Syndrome	Delayed closure of the anterior fontanelle, Multiple joint contractures, Joint contracture of the...	OMIM:305450
Chromosome 13Q33-Q34 Deletion Syndrome	Tapered finger, Camptodactyly, Left ventricular hypertrophy, Overlapping toe, Single transverse p...	OMIM:619148
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Clinodactyly, Camptodactyly, Broad hallux, Broad thumb, Sandal gap, Brachydactyly...	OMIM:618529
Orofaciodigital Syndrome Ix	Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly	OMIM:258865
Catel-Manzke Syndrome	Short toe, Genu valgum, Joint dislocation, Short metacarpal, Camptodactyly, Clinodactyly of the 5...	OMIM:616145
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Camptodactyly, Palmoplantar hyperkeratosis, Clinodactyly of the 5t...	OMIM:280000
Glutamine Deficiency, Congenital	Flexion contracture, Camptodactyly	OMIM:610015
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Camptodactyly, Metatarsus adductus, Calcaneovalgus deformity, Arac...	OMIM:612513
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Short phalanx of finger, Wide anterior fontanel, Short long bone,...	OMIM:249420
Immunodeficiency 82 With Systemic Inflammation	Arthritis, Osteomyelitis, Joint swelling, Osteomalacia	OMIM:619381
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Delayed closure of the anterior fontanelle, Joint contracture of the hand, Flexio...	OMIM:300373
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Familial Glucocorticoid Deficiency	Failure to thrive, Hyperkalemia, Weight loss, Hyponatremia	ORPHA:361
Alg12-Cdg	Polyhydramnios, Abnormal bone ossification, Short long bone, Ulnar deviation of the wrist, Campto...	ORPHA:79324
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Hallux valgus, Flexion contracture of toe, Tibial torsion, Elbow flexion...	OMIM:602782
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Camptodactyly, Skeletal muscle atrophy, Atypical scarring of skin,...	OMIM:601701
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Joint laxity, Talipes equinovarus, Arachnodactyly	OMIM:301039
Myhre Syndrome	Hypoplastic iliac wing, 2-3 toe syndactyly, Vertebral fusion, Short toe, Short long bone, Pericar...	OMIM:139210
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Hip contracture, Short metacarpal, Keloids, Fused cervical vertebrae, Camp...	OMIM:617137
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatars...	OMIM:227330
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Cognitive impairment, Weight loss, Cachexia, Hyperkalemia, Psychomotor dete...	ORPHA:275761
Cerebrofacioarticular Syndrome	Lymphedema, Caudal appendage, Camptodactyly, Ataxia, Syndactyly, Osteopenia, Tracheomalacia, Tali...	ORPHA:314679
Mirage Syndrome	Decreased body weight, Hyperkalemia, Hyponatremia	OMIM:617053
Meester-Loeys Syndrome	Joint dislocation, Camptodactyly, Joint hypermobility, Brachydactyly, Arachnodactyly, Joint contr...	OMIM:300989
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Hypokalemia	OMIM:602722
Van Den Ende-Gupta Syndrome	Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Dislocated radial ...	OMIM:600920
Native American Myopathy	Muscle fiber atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Camptodactyly...	ORPHA:168572
Adrenocortical Carcinoma	Anxiety, Weight loss, Hypokalemia, Panic attack, Irritability, Increased body weight	ORPHA:1501
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Camptodactyly of toe, Camptodactyly, Broad femoral metaphyses, Arachnodactyly	OMIM:610474
Ethylene Glycol Poisoning	Euphoria, Hypocalcemia, Ataxia, Hyperkalemia	ORPHA:31826
Takenouchi-Kosaki Syndrome	Tapered finger, Lymphedema, Clinodactyly, Camptodactyly, Ataxia, Overlapping toe, Inguinal hernia...	OMIM:616737
Ollier Disease	Multiple enchondromatosis, Abnormal cartilage morphology	ORPHA:296
Hypomagnesemia 2, Renal	Hypokalemia, Chondrocalcinosis, Hypomagnesemia	OMIM:154020
Galloway-Mowat Syndrome 3	Camptodactyly, Hip dislocation, Oligohydramnios, Edema, Arachnodactyly, Hiatus hernia	OMIM:617729
Liddle Syndrome 3	Hypokalemia	OMIM:618126
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Weight loss, Transient hypophosphatemia, Hyperkalemia, Mildly elevated crea...	ORPHA:79102
Peroxisome Biogenesis Disorder 5A (Zellweger)	Wide anterior fontanel, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Single transver...	OMIM:614866
Acute Adrenal Insufficiency	Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H...	ORPHA:95409
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:90791
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Distal Tetrasomy 15Q	Flexion contracture, Hernia, Camptodactyly, Arachnodactyly, Craniosynostosis	ORPHA:314588
Sarcoidosis	Scarring, Pleural effusion, Joint swelling, Chylothorax, Facial palsy	ORPHA:797
Miller-Dieker Lissencephaly Syndrome	Polyhydramnios, Polydactyly, Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5t...	OMIM:247200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Polyhydramnios, Clinodactyly, Camptodactyly, Joint hypermobility, Spina bifida occulta	OMIM:617360
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Ataxia, Conjugated hyperbilirubinemia, Hyperkalemia, Inability to walk	OMIM:608885
Glass Syndrome	Anterior tibial bowing, Camptodactyly, Inguinal hernia, Generalized osteoporosis, Facial hypotoni...	OMIM:612313
Duane Retraction Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Hypoplasia of th...	ORPHA:233
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul...	OMIM:241150
Galloway-Mowat Syndrome 1	Hand clenching, Joint contracture of the hand, Camptodactyly, Ataxia, Oligohydramnios, Slender fi...	OMIM:251300
Robinow Syndrome, Autosomal Dominant 2	Calvarial osteosclerosis, Partial duplication of the phalanx of hand, Clinodactyly, Camptodactyly...	OMIM:616331
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hyperkalemia, Hyponatremia	ORPHA:90790
Nablus Mask-Like Facial Syndrome	Tapered finger, Joint contracture of the hand, Clinodactyly, Camptodactyly, Short hallux, Single ...	OMIM:608156
Aymé-Gripp Syndrome	Delayed cranial suture closure, Tapered finger, Pericardial effusion, Radioulnar synostosis, Camp...	ORPHA:1272
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Polyhydramnios, Flexion contracture, Coxa valga, Epiphyseal stippling, Camptodactyly...	ORPHA:96334
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Cohen-Gibson Syndrome	Hypoplastic iliac wing, Flexion contracture, Coxa valga, Accelerated skeletal maturation, Camptod...	OMIM:617561
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear/anxiety-related behavior, Hypokalemia, Emotional lability, Obesity, Abdominal obesity	OMIM:219090
Cystinosis	Failure to thrive, Hypophosphatemia, Gait disturbance, Hypokalemia	ORPHA:213
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Cholera	Hypokalemia, Irritability, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Lethargy	ORPHA:173
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Self-injurious behavior, Hyponatremia, Hyperkalemia, Emotional lability, Dep...	ORPHA:293987
East Syndrome	Inability to walk, Hypokalemia, Increased circulating renin level, Ataxia, Difficulty walking, Hy...	ORPHA:199343
Chromosome 16P13.3 Duplication Syndrome	Short toe, Tracheobronchomalacia, Tapered finger, Short thumb, Camptodactyly, Hip dislocation, In...	OMIM:613458
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Atrophic scars, Camptodactyly, Joint hypermobility, Slender finger, Bilateral talipes equinovarus...	OMIM:618343
Liddle Syndrome	Hypokalemia	ORPHA:526
Congenital Heart Defects And Skeletal Malformations Syndrome	Clinodactyly of the 5th finger, Camptodactyly, Joint hypermobility, Congenital diaphragmatic hern...	OMIM:617602
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Addison Disease	Hyperuricemia, Weight loss, Hyperkalemia, Increased circulating renin level, Failure to thrive, H...	ORPHA:85138
X-Linked Intellectual Disability, Snyder Type	Cerebral edema, Decreased muscle mass, Recurrent fractures, Inability to walk, Slender toe, Campt...	ORPHA:3063
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:214700
Trisomy 10P	Short toe, Contracture of thumb, Decreased muscle mass, Abnormal hip joint morphology, Ulnar devi...	ORPHA:171929
21Q22.11Q22.12 Microdeletion Syndrome	Clinodactyly, Camptodactyly, Cone-shaped epiphyses of the phalanges of the hand, Delayed skeletal...	ORPHA:261323
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Flexion contracture, 3-4 finger cutaneous syndactyly, Camptodactyly, 2-3 toe cutaneous syndactyly...	OMIM:620029
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Teebi-Shaltout Syndrome	Caudal appendage, Talipes equinovarus, Camptodactyly, Metatarsus adductus, Syndactyly, Single tra...	OMIM:272950
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Hyperkalemia, Hyponatremia	ORPHA:293978
H Syndrome	Hernia, Hallux valgus, Recurrent fractures, Camptodactyly, Osteolysis, Lipodystrophy, Delayed ske...	ORPHA:168569
Fanconi-Bickel Syndrome	Failure to thrive, Hypophosphatemia, Hypouricemia, Hypokalemia	OMIM:227810
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ...	ORPHA:168558
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:423
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ...	ORPHA:289548
Marfan Syndrome	Protrusio acetabuli, Arachnodactyly, Flexion contracture, Decreased muscle mass, Reduced subcutan...	OMIM:154700
Dpagt1-Cdg	Flexion contracture, Akinesia, Inability to walk, Clinodactyly, Camptodactyly, Ataxia, Lipodystro...	ORPHA:86309
Cardiofacioneurodevelopmental Syndrome	Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Carpenter Syndrome 2	Knee flexion contracture, Coxa vara, Diaphragmatic eventration, Cutaneous finger syndactyly, Shor...	OMIM:614976
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Hip dysplasia, Camptodactyly, Hip dislocation, Inguinal hern...	OMIM:617403
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hyperkalemia, Ataxia, Elevated circulating creatine kinase concentration, Hypo...	ORPHA:466650
Bartter Syndrome Type 4	Small for gestational age, Hypokalemia, Increased circulating renin level, Emotional lability, Fa...	ORPHA:89938
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Tapered finger, Camptodactyly, Brachydactyly, Finger clinodactyly, Rocker bottom foot	OMIM:601353
Fryns Syndrome	Polyhydramnios, Joint contracture of the hand, Short thumb, Camptodactyly, Single transverse palm...	OMIM:229850
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Camptodactyly, Absent palmar crease, Short metacarpal	OMIM:614230
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Flexion contracture, Tapered finger, Small hand, Clinodactyly, Camptodactyly, Overlapping toe, De...	OMIM:309590
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Camptodactyly	ORPHA:363444
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Ataxia, Failure to thrive, Chondrocalcinosis, Hyp...	OMIM:263800
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Tapered finger, Small hand, Hip dysplasia, 1-2 toe syndactyly, Clinodactyly, Camptodactyly, Broad...	OMIM:301044
Robinow Syndrome, Autosomal Dominant 3	Short phalanx of finger, Clinodactyly, Camptodactyly, Syndactyly, Broad thumb, Brachydactyly, Omp...	OMIM:616894
Normosmic Congenital Hypogonadotropic Hypogonadism	Generalized joint laxity, Camptodactyly, Delayed skeletal maturation, Osteopenia, Osteoporosis	ORPHA:432
Ayme-Gripp Syndrome	Delayed cranial suture closure, Tapered finger, Camptodactyly, Radioulnar synostosis, Brachydactyly	OMIM:601088
Neu-Laxova Syndrome 1	Polyhydramnios, Finger syndactyly, Joint contracture of the hand, Yellow subcutaneous tissue cove...	OMIM:256520
Liddle Syndrome 2	Decreased circulating renin level, Hypokalemia	OMIM:618114
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Tibial torsion, Long hallux, Camptodactyly, Macroglossia, Metatarsus adductus, Abnormal thumb mor...	ORPHA:500095
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperphosphatemia, Decreased body weight, Hyperkal...	ORPHA:340
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flexion contracture, Tapered finger, Lymphedema, Clinodactyly, Camptodactyly, Overlapping toe, In...	ORPHA:487796
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:613090
Loeys-Dietz Syndrome 2	Protrusio acetabuli, Joint contracture of the hand, Camptodactyly, Joint laxity, Brachydactyly, I...	OMIM:610168
Schinzel-Giedion Syndrome	Hypoplastic pubic bone, Wide anterior fontanel, Short 1st metacarpal, Radioulnar synostosis, Camp...	ORPHA:798
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Hypocalcemia, Hyperkalemia, Hyponatremia	ORPHA:544482
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Failure to thrive, Hypokalemia	ORPHA:320
Infantile Nephropathic Cystinosis	Cognitive impairment, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Failure to...	ORPHA:411629
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo...	ORPHA:31824
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Clinodactyly, Camptodactyly	ORPHA:228426
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mesoaxial foot polydactyly, Camptodactyly, Clinodactyly of the 5th finger, Joint laxity, Joint hy...	OMIM:612474
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia	OMIM:177200
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r...	OMIM:601678
Loeys-Dietz Syndrome 1	Camptodactyly, Joint laxity, Arachnodactyly, Postaxial hand polydactyly, Craniosynostosis, Talipe...	OMIM:609192
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Inability to walk, Calcinosis, Hypokalemia, Congenital hip dislocation, Hyponatremia, Hypocalcemia	OMIM:617913
Osteootohepatoenteric Syndrome	Failure to thrive, Hypokalemia, Increased serum bile acid concentration, Weight loss	OMIM:619377
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Dysdiadochokinesis, Hypokalemia, Increased circulating renin level, Ataxia, Hypomagnesemia	OMIM:612780
Loeys-Dietz Syndrome 3	Protrusio acetabuli, Hip osteoarthritis, Osteochondritis dissecans, Talipes equinovarus, Camptoda...	OMIM:613795
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Hyperkalemia, Failure to thrive, Hypochloremia, Hyponatremia	ORPHA:90794
Hepatocellular Carcinoma	Weight loss, Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hy...	ORPHA:88673
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Athetosis	ORPHA:369929
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei...	OMIM:613095
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremia, Elevated cir...	ORPHA:411634
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Hypokalemia, Athetosis	OMIM:615474
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Humeroradial synostosis, Joint contracture of the hand, Small for gestational age, Decreased circ...	OMIM:201750
Juvenile Polyposis Syndrome	Failure to thrive, Hypokalemia, Hypoalbuminemia	OMIM:174900
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Hypokalemia	OMIM:613677
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Genu valgum, Weight loss, Decreased plasma carnitine, Hypophosphatem...	OMIM:219800
Lethal Kniest-Like Dysplasia	Abnormal cartilage matrix, Abnormal cartilage morphology	ORPHA:2347
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce...	ORPHA:90038
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Hypokalemia	ORPHA:231632
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Failure to thrive, Hypokalemia, Ataxia, Hyponatremia	OMIM:618426
Renpenning Syndrome 1	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Camptodactyly, Clinodact...	OMIM:309500
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Delayed closure of the anterior fontanelle, Short 5th finger, Wide anter...	OMIM:607872
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r...	OMIM:241200
Chromosome 1P36 Deletion Syndrome, Proximal	Clinodactyly, Camptodactyly	OMIM:619343
Ablepharon-Macrostomia Syndrome	Ventral hernia, Short metacarpal, Cutaneous finger syndactyly, Toe syndactyly, Camptodactyly, Cli...	OMIM:200110
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Hypokalemia	ORPHA:231580
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Depression	OMIM:170390
Primary Fanconi Renotubular Syndrome	Weight loss, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosphatemic rickets,...	ORPHA:3337
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Decreased circulating renin level, Hypokalemia	ORPHA:231625
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia	OMIM:602522
Marburg Hemorrhagic Fever	Aggressive behavior, Arthritis, Hypokalemia, Elevated circulating creatine kinase concentration, ...	ORPHA:99826
Mercury Poisoning	Hypokalemia	ORPHA:330021
Pearson Syndrome	Hyperalaninemia, Small for gestational age, Hypophosphatemia, Hypokalemia, Ataxia, Hypocalcemia, ...	ORPHA:699
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating renin level, Failure to thrive, Hypokalemia	ORPHA:90793
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Gitelman Syndrome	Chondrocalcinosis, Hypokalemia, Hypermagnesemia, Gout, Failure to thrive, Hypocalcemia, Hypomagne...	ORPHA:358
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Genu valgum, Flexion contracture, Hallux valgus, Inability to walk, Long hallux, Camptodactyly, A...	ORPHA:261537
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Mowat-Wilson Syndrome	Genu valgum, Flexion contracture, Tapered finger, Hallux valgus, Recurrent fractures, Inability t...	ORPHA:2152
Multiple Osteochondromas	Abnormality of the knee, Genu valgum, Talipes valgus, Abnormal carpal morphology, Femoroacetabula...	ORPHA:321
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Genu valgum, Flexion contracture, Hallux valgus, Inability to walk, Long hallux, Camptodactyly, A...	ORPHA:261552
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	ORPHA:90795
Vipoma	Hypokalemia, Hypercalcemia, Weight loss	ORPHA:97282
Microphthalmia, Syndromic 1	Abnormal palmar dermatoglyphics, Joint contracture of the hand, Clinodactyly, Camptodactyly, Down...	OMIM:309800
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
Immunodeficiency 87 And Autoimmunity	Small for gestational age, Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive pro...	OMIM:619573
Distal Renal Tubular Acidosis	Failure to thrive, Hypokalemia	ORPHA:18
Encephalocraniocutaneous Lipomatosis	Osteochondrosis, Abnormal cartilage morphology	ORPHA:2396
Scorpion Envenomation	Hypokalemia, Increased circulating creatine kinase MB isoform, Ataxia, Increased circulating NT-p...	ORPHA:466677
Leprechaunism	Failure to thrive, Hypokalemia, Decreased body weight, Increased circulating renin level	ORPHA:508
Proximal Renal Tubular Acidosis	Failure to thrive, Hypokalemia, Bicarbonaturia	ORPHA:47159
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia	OMIM:202010
Nelson Syndrome	Hypokalemia	ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Cognitive impairment, Hypokalemia, Congenital hip dislocation, Osteoarthritis	ORPHA:286

Histopathology

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

There is no histopathology data for Prg4

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 Prg4.

No publications found that use IMPC mice or data for Prg4.

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MGI Allele	Allele Type	Produced
Prg4^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Prg4^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice

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Gene: Prg4 MGI:1891344

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Prg4 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data