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
decreased body weight Prg4em1(IMPC)Ccpcz HOM Early adult 8.11×10-07
decreased locomotor activity Prg4em1(IMPC)Ccpcz HOM   Early adult 2.20×10-07
decreased exploration in new environment Prg4em1(IMPC)Ccpcz HOM Early adult 3.01×10-06
increased anxiety-related response Prg4em1(IMPC)Ccpcz HOM   Early adult 1.73×10-07
abnormal joint morphology Prg4em1(IMPC)Ccpcz HOM Early adult 7.43×10-10
improved glucose tolerance Prg4em1(IMPC)Ccpcz HOM   Early adult 7.14×10-05
decreased grip strength Prg4em1(IMPC)Ccpcz HOM Early adult 1.34×10-23
abnormal skin morphology Prg4em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating potassium level Prg4em1(IMPC)Ccpcz HOM   Early adult 9.11×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Hind Leg and Hip

34 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral 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
Coxa vara, Flattened metacarpal heads, Flattened metatarsal heads, Wrist flexion contracture, Con... OMIM:208250

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
Hamstring contractures, Tip-toe gait, Camptodactyly of finger, Wrist flexion contracture, Distal ... OMIM:187370
Osteochondritis Dissecans
Joint swelling, Joint stiffness, Decreased hip abduction, Quadriceps muscle atrophy, Abnormal mus... ORPHA:2764
Panner Disease
Joint swelling, Large elbow, Abnormality of the humerus, Limited elbow extension, Limited elbow m... ORPHA:97336
Arthrogryposis, Congenital, Lower Limb, X-Linked
Hip contracture, Gait disturbance, Arthrogryposis multiplex congenita, Knee flexion contracture, ... OMIM:300158
Osgood-Schlatter Disease
Irregular proximal tibial epiphyses, Large knee, Shuffling gait, Difficulty walking, Knee pain, A... ORPHA:97335
Intermittent Hydrarthrosis
Joint swelling, Knee joint hypermobility, Chondrocalcinosis, Abnormality of the knee ORPHA:329967
Sinding-Larsen-Johansson Disease
Joint swelling, Limitation of knee mobility, Knee pain, Painless fractures due to injury, Osteoch... ORPHA:97337
Progressive Pseudorheumatoid Dysplasia
Joint swelling, Joint stiffness, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of... ORPHA:1416
Genochondromatosis Type 1
Abnormality of the knee, Multiple enchondromatosis ORPHA:85197
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral... ORPHA:85435
Arthrogryposis, Distal, Type 1B
Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Distal arthrogryposis, Arthrog... OMIM:614335
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Camptodactyly of finger, Abnormality of lower limb joint ORPHA:85164
Tenosynovial Giant Cell Tumor
Joint swelling, Joint stiffness, Limitation of joint mobility, Chondrocalcinosis, Abnormality of ... ORPHA:66627
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Mosaic Trisomy 15
Abnormality of the hand, Camptodactyly of finger, Deviation of finger ORPHA:1706
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized osteoporosis, Join... ORPHA:1159
Cranio-Osteoarthropathy
Joint swelling, Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Devi... ORPHA:1525
Camptodactyly 1
Camptodactyly of finger, Knee dislocation, Joint subluxation OMIM:114200
Osteochondrosis Of The Tarsal Bone
Avascular necrosis, Ankle pain, Chondritis, Antalgic gait, Arthritis, Tarsal sclerosis, Juvenile ... ORPHA:563991
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses OMIM:264010
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Legg-Calvé-Perthes Disease
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation, Skelet... ORPHA:2380
Metaphyseal Dysplasia, Spahr Type
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... OMIM:250400
Spondylocamptodactyly
Camptodactyly of finger, Camptodactyly OMIM:600000
Digitotalar Dysmorphism
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger OMIM:126050
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Ulnar deviati... OMIM:618435
Osteosarcoma
Abnormal femoral metaphysis morphology, Joint swelling, Abnormal tibial metaphysis morphology, Pa... ORPHA:668
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Hemochromatosis Type 4
Joint swelling, Joint dislocation, Limitation of joint mobility ORPHA:139491
Arthrogryposis, Distal, Type 11
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... OMIM:620019
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Camptodactyly OMIM:217990
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Syndactyly Type 3
Short toe, Camptodactyly of finger, Finger syndactyly ORPHA:93404
Farber Lipogranulomatosis
Joint swelling, Hyperextensibility of the finger joints, Ulnar deviation of the wrist, Arthritis,... OMIM:228000
Wahab Syndrome
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... OMIM:615170
Metachondromatosis
Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis OMIM:156250
Rheumatoid Arthritis
Joint swelling, Joint stiffness, Swan neck-like deformities of the fingers, Interphalangeal joint... OMIM:180300
Autosomal Recessive Spastic Paraplegia Type 45
Spastic gait, Ankle flexion contracture, Flexion contracture of toe, Knee flexion contracture ORPHA:320396
Multiple Epiphyseal Dysplasia Type 1
Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Limitation of joint mobility, Finger... ORPHA:93308
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Arthralgia of the hip, Knee pain, Abnormal cartilage morphology, P... ORPHA:93284
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Coxa vara, Flattened metacarpal heads, Flattened metatarsal heads, Wrist flexion contracture, Con... OMIM:208250
Distal Arthrogryposis Type 1
Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlappi... ORPHA:1146
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Juvenile Idiopathic Arthritis
Joint swelling, Joint stiffness, Joint dislocation, Cartilage destruction, Arthritis, Abnormal jo... ORPHA:92
Majeed Syndrome
Joint swelling, Osteomyelitis, Flexion contracture, Bone pain, Delayed skeletal maturation OMIM:609628
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb ORPHA:1471
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Oligoarthritis, Joint stiffness, Flexion contracture, Abnormality of the hand, Ab... ORPHA:85408
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Clinodactyly of the 5th finger, Short thumb, Camptodactyly OMIM:618453
Spastic Paraplegia 20, Autosomal Recessive
Dysmetria, Flexion contracture, Ankle clonus, Brachydactyly, Lower limb muscle weakness, Distal a... OMIM:275900
Familial Afibrinogenemia
Joint swelling ORPHA:98880
Masa Syndrome
Gait disturbance, Camptodactyly of finger, Clinodactyly of the 5th finger, Hand clenching ORPHA:2466
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hamstring contractures, Scapular muscle atrophy, Pectoralis amyotrophy, Tip-toe gait, Flexion con... ORPHA:267
Patterson Pseudoleprechaunism Syndrome
Joint swelling, Palmoplantar cutis laxa, Talipes valgus, Irregular acetabular roof, Large hands, ... OMIM:169170
Moderate Hemophilia A
Joint hemorrhage, Joint swelling, Hip contracture, Limitation of joint mobility, Cartilage destru... ORPHA:169805
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Camptodactyly of finger, Chess-pawn distal p... OMIM:113450
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly OMIM:225280
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Synostosis of carpal bones, Symphalangism affecting the... ORPHA:3248
Hemophilia A
Joint hemorrhage, Joint swelling, Intramuscular hematoma, Abnormality of the elbow ORPHA:98878
Epidermolytic Palmoplantar Keratoderma
Palmar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Camptodactyly, Palmoplantar hyperkera... ORPHA:2199
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Delayed cranial suture closure, Syndactyly... OMIM:113000
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Multiple lipomas, Osteoporosis, Skeletal muscle atrophy, Limitation of j... ORPHA:3294
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Arthrogryposis, Distal, Type 1A
Overlapping toe, Decreased hip abduction, Hip contracture, Talipes equinovarus, Joint contracture... OMIM:108120
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Camptodactyly OMIM:619420
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Derma... OMIM:211960
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Finger syndactyly, Camptodactyly of finger, Syno... ORPHA:3250
Bethlem Myopathy 1
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... OMIM:158810
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, ... ORPHA:412066
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Internally rotated shoulders, Talipes equinovarus, Flexion contracture, Scapular... OMIM:617468
Chromosome 16P13.3 Duplication Syndrome
Short toe, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Proximal placeme... OMIM:613458
Severe Hemophilia A
Joint hemorrhage, Joint swelling, Progressive joint destruction, Limitation of joint mobility, In... ORPHA:169802
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Joint swelling, Pleural effusion ORPHA:85414
Fetal Akinesia Deformation Sequence 4
Flexion contracture, Camptodactyly, Polyhydramnios, Arthrogryposis multiplex congenita, Rocker bo... OMIM:618393
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Limited should... OMIM:184900
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Camptodactyly of finger, Bowing of the arm, Mesomel... OMIM:249710
Alkaptonuria
Joint swelling, Joint stiffness, Joint dislocation, Tendon rupture, Reduced bone mineral density,... ORPHA:56
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Overlapping fingers, Micromelia, Camptodactyly, Limb undergrowth OMIM:601016
Wilson Disease
Joint swelling, Proximal muscle weakness in lower limbs, Abnormality of the hand, Arthritis, Path... ORPHA:905
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly, Arthritis ORPHA:1937
Pseudoleprechaunism Syndrome, Patterson Type
Joint swelling, Metaphyseal sclerosis, Palmoplantar cutis laxa, Large hands, Genu valgum, Flat ac... ORPHA:2976
Arthrogryposis, Impaired Intellectual Development, And Seizures
Knee dislocation, Camptodactyly of finger, Arthrogryposis multiplex congenita, Hip dislocation, A... OMIM:615553
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteovalgus OMIM:614257
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Gait ataxia, Flexion contracture of toe OMIM:619323
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Camptodactyly of finger ORPHA:1325
Perching Syndrome
Flexion contracture, Camptodactyly OMIM:617055
Mesomelic Dysplasia, Kantaputra Type
Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormality of the ankles, Synostosis of... ORPHA:1836
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Joint swelling OMIM:127820
Adult-Onset Still Disease
Joint swelling, Cartilage destruction, Arthritis ORPHA:829
Leri Pleonosteosis
Joint stiffness, Abnormality of finger, Genu recurvatum, Camptodactyly of finger, Brachydactyly, ... ORPHA:2900
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Lyme Disease
Joint swelling, Arthritis ORPHA:91546
Blau Syndrome
Joint swelling, Cystoid macular edema, Camptodactyly of finger, Tendonitis, Arthritis, Flexion co... OMIM:186580
Arthrogryposis, Distal, Type 1C
Hip contracture, Metacarpophalangeal joint contracture, Clinodactyly of the 5th finger, Talipes e... OMIM:619110
Pachydermoperiostosis
Avascular necrosis, Joint swelling, Osteomyelitis, Small hand, Genu varum, Osteoporosis, Arthriti... ORPHA:2796
Sillence Syndrome
Abnormal morphology of the proximal phalanx of the hallux, Large iliac wing, Intervertebral disc ... ORPHA:3168
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Abnormal hip b... ORPHA:916
Hyperekplexia 4
Talipes equinovarus, Inguinal hernia, Flexion contracture, Adducted thumb, Camptodactyly, Distal ... OMIM:618011
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Mesomelia, Abnormal metacarpal morphology,... ORPHA:2631
20Q11.2 Microdeletion Syndrome
Brachydactyly, Finger clinodactyly, Camptodactyly, Adducted thumb ORPHA:444051
Symptomatic Form Of Hemochromatosis Type 1
Joint swelling, Joint stiffness, Osteoporosis, Arthritis, Abnormal metacarpophalangeal joint morp... ORPHA:465508
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Osteoarthritis of the small joints of the hand, Delayed... ORPHA:93311
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Arthrogryposis, Distal, Type 2B3
Overlapping fingers, Talipes equinovarus, Hallux valgus, Camptodactyly OMIM:618436
Farber Disease
Joint swelling, Short toe, Flexion contracture, Abnormality of the hand, Hydrops fetalis, Osteopo... ORPHA:333
Whistling Face Syndrome, Recessive Form
Talipes equinovarus, Inguinal hernia, Ulnar deviation of finger, Camptodactyly, Shoulder flexion ... OMIM:277720
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Abnormal thumb mor... ORPHA:1927
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Slender finger, Flared metaphysis, Broad femoral neck, Flattened epiphy... OMIM:601668
Huntington Disease-Like 2
Apathy, Bradykinesia, Depression, Anxiety, Weight loss, Irritability, Dementia OMIM:606438
Myopathy, Congenital, Compton-North
Akinesia, Joint contracture of the hand, Arachnodactyly, Overlapping fingers, Camptodactyly, Poly... OMIM:612540
Spondylocamptodactyly Syndrome
Camptodactyly of finger ORPHA:3180
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Micromelia,... ORPHA:2741
Autosomal Recessive Spastic Paraplegia Type 18
Hip contracture, Ankle flexion contracture, Inability to walk, Flexion contracture, Macroglossia,... ORPHA:209951
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia OMIM:614736
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Gait disturbance, ... ORPHA:2928
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Camptodactyly of finger, Slender long bone, Abnormality of the wris... ORPHA:2774
Limb-Mammary Syndrome
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand OMIM:603543
Arthrogryposis, Distal, Type 4
Torticollis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Camptodactyly of 2... OMIM:609128
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis OMIM:612852
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Camptodactyly Syndrome, Guadalajara Type 2
Talipes equinovarus, Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia... ORPHA:1326
Erdheim-Chester Disease
Avascular necrosis, Joint swelling, Ataxia, Osteomyelitis, Increased bone mineral density, Abnorm... ORPHA:35687
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... OMIM:610947
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Scapular winging, Difficulty walking, Ac... ORPHA:610
Contractural Arachnodactyly, Congenital
Hip contracture, Talipes equinovarus, Adducted thumb, Arachnodactyly, Osteopenia, Limited elbow e... OMIM:121050
Partington Syndrome
Flexion contracture, Camptodactyly OMIM:309510
Myasthenic Syndrome, Congenital, 24, Presynaptic
Knee flexion contracture, Camptodactyly OMIM:618198
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Metaphyseal irregularity, Sclerosis of skull base, Metaphyseal dysplasia, Metaphy... OMIM:607944
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum... ORPHA:1425
Reactive Arthritis
Joint swelling, Joint stiffness, Osteomyelitis, Cartilage destruction, Arthritis, Enthesitis ORPHA:29207
Mixed Connective Tissue Disease
Avascular necrosis, Joint swelling, Joint stiffness, Xerostomia, Myositis, Arthritis, Osteolysis ORPHA:809
Developmental Delay With Variable Neurologic And Brain Abnormalities
Down-sloping shoulders, Cubitus valgus, Knee flexion contracture, Camptodactyly OMIM:619694
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Lipodystrophy, Panniculitis OMIM:617099
Arthrogryposis, Distal, Type 2A
Flexion contracture of finger, Rocker bottom foot, Joint dislocation, Talipes equinovarus, Ulnar ... OMIM:193700
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Moebius Syndrome
Facial diplegia, Talipes equinovarus, Dysdiadochokinesis, Brachydactyly, Short phalanx of finger,... OMIM:157900
Terminal Osseous Dysplasia
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... OMIM:300244
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Short metacarpal, Arthralgia of the hip, Abnormal hand morpholog... ORPHA:93307
Arthrogryposis, Distal, Type 5D
Talipes equinovarus, Adducted thumb, Camptodactyly, Elbow flexion contracture, Arthrogryposis mul... OMIM:615065
Frontonasal Dysplasia 1
Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand polydactyly, Pectoral... OMIM:136760
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Joint contracture of the hand, Accelerated skeletal maturation,... OMIM:175700
Pseudodiastrophic Dysplasia
Talipes equinovarus, Camptodactyly, Phalangeal dislocation, Rhizomelia, Elbow dislocation OMIM:264180
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Monosomy 22
Joint swelling, Clinodactyly of the 5th finger, Single transverse palmar crease, Contractures of ... ORPHA:96123
Summitt Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Prominent metopic ridge, Camptodactyly of finge... ORPHA:3210
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Joint dislocation, Ulnar deviation of the 2n... OMIM:616145
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Craniosynostosis, Camptodactyly, Elbow fle... OMIM:178110
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Ataxia, Flexion contracture of finger, Joint contracture of the hand, Camptodac... OMIM:609033
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Joint dislocation, Abnormal cartilage matrix OMIM:245650
Catifa Syndrome
Gait disturbance, Inguinal hernia, Camptodactyly OMIM:618761
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Levator palpebrae superioris atrophy, Joint contracture of the hand, Camptodactyly of finger, Con... OMIM:600638
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Flexion contracture, Dehydration, Osteoporosis, Camptodactyly, Elb... OMIM:214150
Congenital Disorder Of Glycosylation, Type Ie
Ataxia, Small hand, Muscular dystrophy, Upper limb undergrowth, Camptodactyly, Knee flexion contr... OMIM:608799
Camptobrachydactyly
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Systemic Sclerosis
Joint swelling, Osteomyelitis, Flexion contracture, Arthritis, Osteolytic defects of the phalange... ORPHA:90291
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Broad-based gait, Inability to walk, Talipes equinovarus, Flexion contracture, Arachnodactyly, Lo... OMIM:617146
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal craniosynostosis, U... OMIM:201000
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Hip contracture, Talipes equinovarus, Inguinal hernia, Adducted thumb, Camptodactyly, Elbow flexi... OMIM:616266
Joubert Syndrome 18
Joint laxity, Polydactyly, Camptodactyly OMIM:614815
Fibrochondrogenesis 1
Widely patent coronal suture, Widely patent sagittal suture, Short palm, Clinodactyly of the 5th ... OMIM:228520
Stuve-Wiedemann Syndrome 2
Short long bone, Bowing of the long bones, Camptodactyly OMIM:619751
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Ulnar deviat... OMIM:265000
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:610600
Schaaf-Yang Syndrome
Inability to walk, Flexion contracture, Small hand, Brachydactyly, Narrow palm, Tapered finger, C... OMIM:615547
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:203400
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Limitation of joint mobility, Joint contracture of the han... OMIM:224400
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture of... OMIM:260660
Pallister W Syndrome
Radial bowing, Joint contracture of the hand, Camptodactyly, Hypoplasia of the ulna, Cubitus valg... OMIM:311450
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Congenital hip ... OMIM:300280
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbell-shaped fem... ORPHA:56304
Chikungunya
Joint swelling, Joint stiffness, Facial edema, Ankle joint effusion, Arthritis, Pedal edema, Oste... ORPHA:324625
Spinocerebellar Ataxia, Autosomal Recessive 20
Ataxia, Inability to walk, Talipes equinovarus, Macroglossia, Brachydactyly, Camptodactyly, Clino... OMIM:616354
Imagawa-Matsumoto Syndrome
Accelerated skeletal maturation, Camptodactyly, Large hands, Clinodactyly, Umbilical hernia OMIM:618786
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Arthrogryposis multiplex congenita, Camptodactyly OMIM:614262
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Broad hallux, Genu valgum, Rhizomelia, Short long bone, Metaphyseal irregularity,... OMIM:618019
W Syndrome
Radial bowing, Camptodactyly, Hypoplasia of the ulna, Cubitus valgus, Clinodactyly, Metatarsus ad... ORPHA:2804
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Arthrogryposis, Distal, Type 2B1
Talipes equinovarus, Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of th... OMIM:601680
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Tapered finger, Camptodactyly, Single transverse palmar crease, Knee flexion contracture, Ankle f... ORPHA:435938
Warburg-Cinotti Syndrome
Joint swelling, Flexion contracture of finger, Wrist flexion contracture, Osteolytic defects of t... OMIM:618175
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Joint dislocation, Camptodactyly of finger, Tapered fi... ORPHA:3201
Arthrogryposis, Distal, Type 3
Overlapping toe, Decreased hip abduction, Talipes equinovarus, Camptodactyly of toe, Camptodactyl... OMIM:114300
Crisponi/Cold-Induced Sweating Syndrome 1
Talipes equinovarus, Adducted thumb, Facial palsy, Tapered finger, Limited elbow extension, Campt... OMIM:272430
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Syndactyly, Osteoporosis, Camptodactyly OMIM:616006
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, C1-C2 subluxation, Thin metacarpal cortices, Delayed closure of the anterior fontanel... OMIM:259600
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Adducted thumb, Camptodactyly of finger, Flared metaphysis, Steep acetabu... OMIM:610758
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Osteomyelitis, Flexion contracture of finger, Camptodactyly, Gait disturbance, Gait ataxia ORPHA:88628
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level OMIM:177735
Stuve-Wiedemann Syndrome 1
Enlarged joints, Femoral bowing, Ulnar deviation of finger, Single transverse palmar crease, Cont... OMIM:601559
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:264350
Classical Ehlers-Danlos Syndrome
Joint swelling, Dislocated radial head, Uterine prolapse, Hiatus hernia, Talipes equinovarus, Ing... ORPHA:287
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level ORPHA:556030
Weaver Syndrome
Accelerated skeletal maturation, Prominent fingertip pads, Short fourth metatarsal, Single transv... OMIM:277590
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Wieacker-Wolff Syndrome
Talipes equinovarus, Congenital foot contractures, Palmar hyperkeratosis, Distal amyotrophy, Camp... OMIM:314580
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Swelling of proximal interphalangeal joints, Arthritis, Angioedema, Ankle swellin... ORPHA:3260
Split-Hand/Foot Malformation 3
Split hand, Camptodactyly OMIM:246560
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Flexion contracture, Coronal craniosynostosis, Femoral bowing, Arachnodac... OMIM:207410
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Flexion contracture, Macroglossi... ORPHA:254528
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Hyperkalemia OMIM:608885
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... ORPHA:171876
Schwartz-Jampel Syndrome, Type 1
Quadriceps muscle weakness, Congenital hip dislocation, Micromelia, Umbilical hernia, Anterior bo... OMIM:255800
Acromegaly
Joint swelling, Macroglossia, Cortical diaphyseal thickening of the upper limbs, Deep palmar crea... ORPHA:963
Somatomammotropinoma
Joint swelling, Macroglossia, Cortical diaphyseal thickening of the upper limbs, Deep palmar crea... ORPHA:314769
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Short distal phalanx of finger, Joint stiffness, Increased a... OMIM:248370
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Oste... ORPHA:3409
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Camptodactyly, Mesomelia, Ventral hernia, Broad thumb, Clinodactyly, Omphalocele OMIM:618529
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Fibrosclerosis, Multifocal
Camptodactyly of finger, Joint contracture of the hand OMIM:228800
Familial Hypoaldosteronism
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Lethargy ORPHA:427
Hyperkalemic Periodic Paralysis
Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, Hyponatremia, ... ORPHA:682
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Joint stiffness, Recurrent fractures, Inguinal hernia, Abnormal metaphysis morpho... ORPHA:534
Camptobrachydactyly
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly OMIM:114150
Peroxisome Biogenesis Disorder 2A (Zellweger)
Talipes equinovarus, Joint contracture of the hand, Stippled chondral calcification, Palpebral ed... OMIM:214110
Peroxisome Biogenesis Disorder 5A (Zellweger)
Talipes equinovarus, Stippled chondral calcification, Palpebral edema, Camptodactyly, Single tran... OMIM:614866
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Joint contracture of the hand, Camptodactyly OMIM:179613
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Clinodactyly, Camptodactyly OMIM:613604
Alg8-Cdg
Ataxia, Talipes equinovarus, Macroglossia, Hydrops fetalis, Brachydactyly, Camptodactyly, Edema, ... ORPHA:79325
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Slender finger, Falls, Tapered finger, Single transverse pal... OMIM:619503
Birk-Landau-Perez Syndrome
Limb ataxia, Failure to thrive in infancy, Difficulty walking, Choreoathetosis, Increased circula... OMIM:617595
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Talipes equinovarus, Inguinal hernia, Adducted thumb, Arachnodactyly, Camptodactyly, Facial hypot... OMIM:615539
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Alkuraya-Kucinskas Syndrome
Overlapping toe, Talipes equinovarus, Adducted thumb, Cutaneous syndactyly, Overlapping fingers, ... OMIM:617822
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Arthrogryposis Multiplex Congenita 5
Akinesia, Talipes equinovarus, Flexion contracture, Inguinal hernia, Adducted thumb, Limitation o... OMIM:618947
Stevenson-Carey Syndrome
Hip dysplasia, Joint contracture of the hand, Camptodactyly OMIM:611961
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Bilateral single transverse palmar creases, Camptodactyly, Clinodactyly,... OMIM:618804
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Syndactyly, Camptodactyly, Broad hallux, Clinoda... OMIM:300963
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Blau Syndrome
Joint swelling, Limitation of joint mobility, Camptodactyly of finger, Xerostomia, Polyarticular ... ORPHA:90340
Marden-Walker Syndrome
Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Arac... OMIM:248700
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Camptodactyly of finger, Ataxia OMIM:214980
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Small hand, Osteopenia, Left ventricular hypertrophy, Camptodactyly, Rhizome... OMIM:611209
Bohring-Opitz Syndrome
Dislocated radial head, Short toe, Overlapping toe, Joint dislocation, Flexion contracture, Deep ... OMIM:605039
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Genu valgum, Delayed skeletal maturation, Absent sternal ossification, Elbo... OMIM:224690
Dpm1-Cdg
Long hallux, Ataxia, Muscular dystrophy, Camptodactyly, Limb undergrowth, Sandal gap, Knee flexio... ORPHA:79322
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Camptodactyly OMIM:617333
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Camptodactyly OMIM:608257
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Geroderma Osteodysplasticum
Recurrent fractures, Tibial bowing, Hyperextensibility of the finger joints, Osteopenia, Femoral ... OMIM:231070
Mucolipidosis Ii Alpha/Beta
Craniosynostosis, Osteopenia, Bullet-shaped phalanges of the hand, Varus deformity of humeral nec... OMIM:252500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Talipes equinovarus, Joint contracture of the hand, Coronal craniosynostosis, Small hand, Bilater... OMIM:235510
Meester-Loeys Syndrome
Joint dislocation, Joint hypermobility, Flexion contracture, Camptodactyly OMIM:300989
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Camptodactyly, Postaxial hand polydactyly, Po... OMIM:614175
Genetic Recurrent Myoglobinuria
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Familial Glucocorticoid Deficiency
Failure to thrive, Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Weight loss, Hyperk... ORPHA:361
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Broad-based gait, Ataxia, Talipes equinovarus, Macroglossia, Palpebral edema, Brachydactyly, Camp... ORPHA:397709
Camptodactyly Syndrome, Guadalajara, Type Iii
Torticollis, Joint contracture of the hand, Absent phalangeal crease, Small thenar eminence, Spin... OMIM:611929
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Ataxia, Inability to walk, Dysmetria, Tapered finger, Camptodactyly, Clinodactyly OMIM:619576
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, Macroglossia, Arthrogryposis-like hand anomaly, Abnormality of the hand, Syndactyly, Camp... ORPHA:369891
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Joint contracture of th... OMIM:611962
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Upper eyelid edema, Camptodactyly, Hemihypotrophy of lower limb,... ORPHA:412035
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Wide anterior fontanel, Genu recurvatum, Joint contracture of the hand, T... OMIM:182212
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Abnormal fear/anxiety-related behavior, Hypokalemia, Impa... OMIM:219090
Meier-Gorlin Syndrome 2
Tracheomalacia, Slender long bone, Camptodactyly, Patellar aplasia, Joint hypermobility, Delayed ... OMIM:613800
Congenital Disorder Of Glycosylation, Type Ih
Talipes equinovarus, Camptodactyly, Edema, Oligohydramnios, Ascites OMIM:608104
Rahman Syndrome
Talipes equinovarus, Accelerated skeletal maturation, Camptodactyly OMIM:617537
Brittle Cornea Syndrome
Corneal scarring, Arachnodactyly, Osteoporosis, Camptodactyly, Gait disturbance, Abnormal epiphys... ORPHA:90354
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Self-biting OMIM:618314
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Adrenocortical Carcinoma
Hypokalemia, Anxiety, Panic attack, Diabetes mellitus, Increased body weight, Weight loss, Irrita... ORPHA:1501
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Slender long bone, Single transverse palmar crease, Camptodactyly, Hallu... OMIM:613385
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Flexion contracture, Rocker bottom foot OMIM:604273
Basilicata-Akhtar Syndrome
Adducted thumb, Camptodactyly, Single transverse palmar crease, Short foot, Short palm OMIM:301032
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... ORPHA:79102
Braddock-Carey Syndrome 1
Talipes equinovarus, Small hand, Camptodactyly, Enamel hypoplasia, Clinodactyly OMIM:619980
Mirage Syndrome
Hypoglycemia, Decreased body weight, Hyperkalemia, Hyponatremia OMIM:617053
Glutamine Deficiency, Congenital
Micromelia, Flexion contracture, Camptodactyly OMIM:610015
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Anxiety, Elevated circulating creatine kinase concentration, Hypern... ORPHA:94093
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Arachnodactyly, Camptodactyly, Metatarsus adductus, Calcaneovalgus... OMIM:612513
Acute Adrenal Insufficiency
Failure to thrive, Increased circulating renin level, Hypoglycemia, Hyponatremia, Hyperuricemia, ... ORPHA:95409
Opitz-Kaveggia Syndrome
Multiple joint contractures, Wide anterior fontanel, Joint contracture of the hand, Prominent fin... OMIM:305450
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Inguinal hernia, Small hand, Bilateral single transverse palmar creases, Camptodactyly, Sagittal ... ORPHA:459061
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Craniosynostosis, Tapered finger, Camptodactyly, Clinodactyly OMIM:608156
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Lethargy OMIM:611590
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Talipes equinovarus, Distally placed thumb, Small thenar eminence, Prominent met... OMIM:619148
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia ORPHA:90790
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperk... ORPHA:90791
Glycogen Storage Disease Due To Aldolase A Deficiency
Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Gait disturbance, Type I diabetes mellitus ORPHA:213
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Failure to thrive, Small for gestational age OMIM:218030
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Glass Syndrome
Broad-based gait, Talipes equinovarus, Inguinal hernia, Arachnodactyly, Camptodactyly OMIM:612313
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Broad-based gait, Clinodactyly of the 5th finger, Joint contracture of the hand, Broad 2nd toe, P... OMIM:280000
Osteopathia Striata With Cranial Sclerosis
Sclerosis of skull base, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture o... OMIM:300373
Frank-Ter Haar Syndrome
Wide anterior fontanel, Talipes equinovarus, Bilateral talipes equinovarus, Delayed cranial sutur... OMIM:249420
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Camptodactyly of finger, Joint contracture of the 5th finger, Camp... OMIM:602782
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Camptodactyly, Arthrogryposis multiplex congenita, Atypical scarri... OMIM:601701
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Gen... OMIM:143095
Galloway-Mowat Syndrome 3
Hiatus hernia, Arachnodactyly, Camptodactyly, Edema, Hip dislocation, Oligohydramnios OMIM:617729
Myhre Syndrome
Joint stiffness, Ataxia, Generalized muscle hypertrophy, Limitation of joint mobility, Overlappin... OMIM:139210
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Arachnodactyly, Camptodactyly of toe, Broad femoral metaphyses, Joint contracture of the hand OMIM:610474
Van Den Ende-Gupta Syndrome
Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Lon... OMIM:600920
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Inguinal hernia, Down-sloping shoulders, Syndactyly, Broad palm, ... OMIM:227330
Addison Disease
Failure to thrive, Increased circulating renin level, Hypoglycemia, Type I diabetes mellitus, Hyp... ORPHA:85138
Alg12-Cdg
Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal bone ossification, Abnormal adipose... ORPHA:79324
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cognitive impairment, Cachexia, Hypertriglyceridemia, Psychomotor deterioratio... ORPHA:275761
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Osteomyelitis, Osteomalacia, Arthritis OMIM:619381
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Partial duplication of thumb phalanx, Brachydactyly, Partial dupl... OMIM:616331
Ethylene Glycol Poisoning
Ataxia, Hypocalcemia, Euphoria, Hyperkalemia ORPHA:31826
Cholera
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Lethargy... ORPHA:173
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Cerebrofacioarticular Syndrome
Ataxia, Talipes equinovarus, Tracheomalacia, Osteopenia, Syndactyly, Camptodactyly, Caudal append... ORPHA:314679
Native American Myopathy
Inability to walk, Talipes equinovarus, Muscle fiber atrophy, Abnormality of skeletal muscle fibe... ORPHA:168572
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Talipes equinovarus, Joint laxity, Camptodactyly OMIM:301039
Takenouchi-Kosaki Syndrome
Overlapping toe, Ataxia, Inguinal hernia, Tapered finger, Camptodactyly, Lymphedema, Clinodactyly... OMIM:616737
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia OMIM:602722
Miller-Dieker Lissencephaly Syndrome
Clinodactyly of the 5th finger, Joint contracture of the hand, Inguinal hernia, Deep palmar creas... OMIM:247200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Spina bifida occulta, Camptodactyly, Polyhydramnios, Clinodactyly, Joint hypermobility OMIM:617360
Sarcoidosis
Joint swelling, Chylothorax, Pleural effusion, Scarring, Facial palsy ORPHA:797
Distal Tetrasomy 15Q
Flexion contracture, Craniosynostosis, Arachnodactyly, Camptodactyly, Hernia ORPHA:314588
Liddle Syndrome 3
Hypokalemia OMIM:618126
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Talipes equinovarus, Abnormal vertebral segmentation and fusion,... ORPHA:233
Cohen-Gibson Syndrome
Accelerated skeletal maturation, Flexion contracture, Osteopenia, Flared metaphysis, Long fingers... OMIM:617561
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Fanconi-Bickel Syndrome
Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Hypouricemia OMIM:227810
Galloway-Mowat Syndrome 1
Ataxia, Hiatus hernia, Joint contracture of the hand, Slender finger, Talipes equinovarus, Campto... OMIM:251300
Hypomagnesemia 2, Renal
Chondrocalcinosis, Hypomagnesemia, Hypokalemia OMIM:154020
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hypokalemia OMIM:188580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Hypokalemia OMIM:613239
Aymé-Gripp Syndrome
Clinodactyly of the 5th finger, Limitation of joint mobility, Congenital diaphragmatic hernia, In... ORPHA:1272
Cutis Laxa, Autosomal Recessive, Type Iid
Hip dislocation, Talipes equinovarus, Inguinal hernia, Camptodactyly OMIM:617403
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Frontometaphyseal Dysplasia 2
Dislocated radial head, Hip contracture, Ulnar deviation of the hand, Talipes equinovarus, Short ... OMIM:617137
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... ORPHA:168558
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Increased circulating renin level, Abnormal circulating cholesterol concentrat... ORPHA:289548
East Syndrome
Hypomagnesemia, Hypokalemia, Inability to walk, Ataxia, Increased circulating renin level, Diffic... ORPHA:199343
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Talipes equinovarus, Slender finger, Long fingers, Camptodactyly, Atrophic scars OMIM:618343
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Finger clinodactyly, Congenital diaphragmatic hernia, Camptodactyly OMIM:617602
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Sho... ORPHA:261323
Trisomy 10P
Flexion contracture of thumb, Short toe, Talipes equinovarus, Decreased muscle mass, Abnormality ... ORPHA:171929
Liddle Syndrome
Hypokalemia ORPHA:526
X-Linked Intellectual Disability, Snyder Type
Recurrent fractures, Inability to walk, Arachnodactyly, Osteoporosis, Camptodactyly, Slender toe,... ORPHA:3063
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Glycosuria, Hypokalemia OMIM:134600
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Generalize... OMIM:256520
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hypokalemia, Hypochloremia, Hyponatremia OMIM:214700
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia ORPHA:423
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyponatremia, Diabetes mellitus, Hyperkalemia, Septic arthritis ORPHA:544482
H Syndrome
Recurrent fractures, Upper eyelid edema, Camptodactyly, Lipodystrophy, Osteolysis, Hallux valgus,... ORPHA:168569
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Teebi-Shaltout Syndrome
Ulnar deviation of the hand, Talipes equinovarus, Syndactyly, Camptodactyly, Single transverse pa... OMIM:272950
Marfan Syndrome
Reduced subcutaneous adipose tissue, Genu recurvatum, Joint hypermobility, Flexion contracture, E... OMIM:154700
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia OMIM:604278
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia ORPHA:564178
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hype... ORPHA:466650
Cardiofacioneurodevelopmental Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly OMIM:619123
Bartter Syndrome Type 4
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... ORPHA:89938
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Brachydactyly, Finger clinodactyly, Tapered finger, Camptodactyly, Rocker bottom foot OMIM:601353
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Camptodactyly ORPHA:363444
Chromosome 8Q21.11 Deletion Syndrome
Absent palmar crease, Syndactyly, Short metacarpal, Camptodactyly OMIM:614230
Infantile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Cognitive impairment, Glycosuria, Abnormal bloo... ORPHA:411629
Robinow Syndrome, Autosomal Dominant 3
Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Mesomelia, Broad thumb, Clinod... OMIM:616894
Dpagt1-Cdg
Akinesia, Ataxia, Inability to walk, Flexion contracture, Arachnodactyly, Osteoporosis, Camptodac... ORPHA:86309
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Flexion contracture, Craniosynostosis, Small hand, Brachydactyly, Tapered finger... OMIM:309590
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Small hand, Contracture of the proximal interphalangeal joint of... OMIM:301044
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Ataxia, Chondrocalcinosis, Increased circulating ... OMIM:263800
Fryns Syndrome
Short distal phalanx of finger, Chylothorax, Joint contracture of the hand, Prominent fingertip p... OMIM:229850
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkal... ORPHA:340
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long hallux, Tibial bowing, Talipes equinovarus, Macroglossia, Inguinal hernia, Spina bifida occu... ORPHA:500095
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level OMIM:300971
Normosmic Congenital Hypogonadotropic Hypogonadism
Generalized joint laxity, Osteopenia, Osteoporosis, Camptodactyly, Delayed skeletal maturation ORPHA:432
Hepatocellular Carcinoma
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Hypoglycemia, Hypoalbuminemia, Hypona... ORPHA:88673
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Flexion contracture, Inguinal hernia, Tapered finger, Camptodactyly, Lymphedema,... ORPHA:487796
Ayme-Gripp Syndrome
Delayed cranial suture closure, Brachydactyly, Tapered finger, Camptodactyly, Radioulnar synostosis OMIM:601088
Gitelman Syndrome
Glucose intolerance, Hypomagnesemia, Hypokalemia, Hypocalcemia, Type II diabetes mellitus, Failur... ORPHA:358
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Hypokalemia, Insulin resistance, Diabetic ketoacidosis, Increased C-p... ORPHA:769
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Carpal synostosis, Joint contracture of the hand, Craniosynostosis, Arachnodactyly, Femoral bowin... OMIM:201750
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Hyponatremia, Neonatal hypoglycemia, Weight loss, Hypochloremia, Hyperkalemia ORPHA:90794
Loeys-Dietz Syndrome 2
Talipes equinovarus, Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Postaxial ... OMIM:610168
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:613090
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Sclerosis of skull base, Wide ant... ORPHA:798
Carpenter Syndrome 2
Coxa vara, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Talipes equinovarus, ... OMIM:614976
3Q29 Microduplication Syndrome
Camptodactyly of toe, Sandal gap, Toe syndactyly, Craniosynostosis ORPHA:251038
Lethal Acantholytic Erosive Disorder
Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl... ORPHA:158687
Juvenile Nephropathic Cystinosis
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypocalcemia, Glycosuria, Hypocalcemic tetany, ... ORPHA:411634
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Clinodactyly, Camptodactyly ORPHA:228426
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Failure to thrive ORPHA:320
Cystinosis, Nephropathic
Hypomagnesemia, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Progressive ... OMIM:219800
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Ataxia, Dysdiadochokinesis, Increased circulating renin level OMIM:612780
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia, Athetosis OMIM:615474
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Multiple joint contractures, Decreased palmar creases, Slender finger, Joint contracture of the h... OMIM:218649
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... OMIM:601678
Loeys-Dietz Syndrome 1
Talipes equinovarus, Craniosynostosis, Arachnodactyly, Camptodactyly, Postaxial hand polydactyly,... OMIM:609192
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss, Hypokalemia, Increased serum bile acid concentration OMIM:619377
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia, Athetosis ORPHA:369929
Loeys-Dietz Syndrome 3
Uterine prolapse, Talipes equinovarus, Cystocele, Craniosynostosis, Intervertebral disc degenerat... OMIM:613795
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Failure to thrive, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria OMIM:602522
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Pearson Syndrome
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Ataxia, Small for gestational age, G... ORPHA:699
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hypo... ORPHA:90038
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Hypokalemia, Decreased body weig... ORPHA:508
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Chromosome 1P36 Deletion Syndrome, Distal
Wide anterior fontanel, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, S... OMIM:607872
Renpenning Syndrome 1
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Clinodactyly of the 5th ... OMIM:309500
Chromosome 1P36 Deletion Syndrome, Proximal
Clinodactyly, Camptodactyly OMIM:619343
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Arthritis, Hypog... ORPHA:99826
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Chondrocalcinosis, Inc... OMIM:241200
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Ablepharon-Macrostomia Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Camptodactyly, Ventral hernia, Omphalocele, ... OMIM:200110
Vipoma
Weight loss, Hypokalemia, Hypercalcemia, Diabetes mellitus ORPHA:97282
Andersen Cardiodysrhythmic Periodic Paralysis
Depression, Hypokalemia OMIM:170390
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Mercury Poisoning
Hypokalemia ORPHA:330021
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Long hallux, Inability to walk, Ulnar deviation of the hand, Flexion contractur... ORPHA:261537
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Failure to thrive ORPHA:90793
Mowat-Wilson Syndrome
Broad-based gait, Recurrent fractures, Ataxia, Inability to walk, Ulnar deviation of the hand, Fl... ORPHA:2152
Scorpion Envenomation
Ataxia, Hypokalemia, Increased circulating NT-proBNP concentration, Glycosuria, Increased circula... ORPHA:466677
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Long hallux, Inability to walk, Ulnar deviation of the hand, Flexion contractur... ORPHA:261552
Multiple Osteochondromas
Talipes valgus, Arthritis, Limitation of knee mobility, Genu valgum, Abnormal cartilage morpholog... ORPHA:321
Nelson Syndrome
Hypokalemia, Type II diabetes mellitus ORPHA:199244
Proximal Renal Tubular Acidosis
Failure to thrive, Hypokalemia, Glycosuria, Bicarbonaturia ORPHA:47159
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Microphthalmia, Syndromic 1
Short clavicles, Abnormal palmar dermatoglyphics, Joint contracture of the hand, Prominent finger... OMIM:309800
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Hypokalemia ORPHA:786
Distal Renal Tubular Acidosis
Failure to thrive, Hypokalemia ORPHA:18
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Abnormal cartilage morphology ORPHA:2396
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive protein concentration, Small f... OMIM:619573
Tsh-Secreting Pituitary Adenoma
Weight loss, Hypokalemia ORPHA:91347
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Joint dislocation, Cognitive impairment, Osteoarthritis, Congenital hip dislocation 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
Prg4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Prg4em1(IMPC)Ccpcz Intra-exon deletion Mice

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