Gene Summary

Name:
proteoglycan 4 (megakaryocyte stimulating factor, articular superficial zone protein)
Synonyms:
SZP,  MSF,  lubricin,  DOL54

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 anxiety-related response Prg4em1(IMPC)Ccpcz HOM   Early adult 1.83×10-07
decreased locomotor activity Prg4em1(IMPC)Ccpcz HOM   Early adult 2.20×10-07
decreased exploration in new environment Prg4em1(IMPC)Ccpcz HOM Early adult 3.07×10-06
abnormal joint morphology Prg4em1(IMPC)Ccpcz HOM Early adult 7.43×10-10
decreased body weight Prg4em1(IMPC)Ccpcz HOM Early adult 8.11×10-07
decreased grip strength Prg4em1(IMPC)Ccpcz HOM Early adult 1.34×10-23
increased circulating potassium level Prg4em1(IMPC)Ccpcz HOM   Early adult 9.11×10-06
abnormal skin morphology Prg4em1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

34 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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.

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 Similarity of
phenotypes
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.

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Prg4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Prg4em1(IMPC)Ccpcz Intra-exon deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter