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 2.06×10-07
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
improved glucose tolerance Prg4em1(IMPC)Ccpcz HOM   Early adult 4.12×10-05
abnormal joint morphology Prg4em1(IMPC)Ccpcz HOM Early adult 7.03×10-10
decreased body weight Prg4em1(IMPC)Ccpcz HOM Early adult 8.11×10-07
decreased grip strength Prg4em1(IMPC)Ccpcz HOM Early adult 1.60×10-23
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

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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 Hind Leg and Hip

34 Images

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Forepaw

17 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
Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A... OMIM:208250
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Polyarticular arthropathy, Asci... 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, Congenital, Lower Limb, X-Linked
Ankle flexion contracture, Gait disturbance, Hip contracture, Knee flexion contracture, Arthrogry... OMIM:300158
Osteochondritis Dissecans
Limited elbow extension, Abnormal tibia morphology, Joint hypermobility, Limitation of joint mobi... ORPHA:2764
Panner Disease
Limited elbow extension, Limited elbow movement, Osteochondrosis, Stiff elbow, Elbow pain, Irregu... ORPHA:97336
Osgood-Schlatter Disease
Difficulty walking, Knee pain, Shuffling gait, Limited knee extension, Large knee, Irregular prox... ORPHA:97335
Arthrogryposis, Distal, Type 10
Tip-toe gait, Plantar flexion contracture, Elbow flexion contracture, Wrist flexion contracture, ... OMIM:187370
Intermittent Hydrarthrosis
Joint swelling, Chondrocalcinosis, Abnormality of the knee, Knee joint hypermobility ORPHA:329967
Sinding-Larsen-Johansson Disease
Osteochondrosis, Limitation of knee mobility, Knee pain, Joint swelling, Painless fractures due t... ORPHA:97337
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Arthritis, Limitation of joint mobility, Calcification of cartilage, Osteoarth... ORPHA:1416
Progressive Pseudorheumatoid Dysplasia
Difficulty walking, Enlarged metacarpophalangeal joints, Enlarged interphalangeal joints, Arthrop... OMIM:208230
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Foot joint contracture, Camptodactyly, Distal arthrogryposis, Arthrogryposis ... OMIM:614335
Genochondromatosis Type 1
Multiple enchondromatosis, Abnormality of the knee ORPHA:85197
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Premature epimetaphyseal fusion, Reduced bone mineral densit... ORPHA:85435
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome
Camptodactyly of finger, Abnormality of lower limb joint ORPHA:85164
Popliteal Cyst
Joint swelling, Abnormality of the knee OMIM:175750
Mosaic Trisomy 15
Deviation of finger, Camptodactyly of finger, Abnormality of the hand ORPHA:1706
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility,... ORPHA:1159
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormality of the wrist, Abnormal shoulder morphology, Synovial lining h... ORPHA:66627
Cranio-Osteoarthropathy
Abnormal tibia morphology, Arthritis, Deviation of finger, Joint stiffness, Osteoarthritis, Clubb... ORPHA:1525
Camptodactyly 1
Joint subluxation, Camptodactyly of finger, Knee dislocation OMIM:114200
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Avascular necrosis, Arthritis, Chondritis, Abnormal ... ORPHA:563991
Legg-Calvé-Perthes Disease
Joint dislocation, Avascular necrosis, Delayed skeletal maturation, Skeletal muscle atrophy, Cart... ORPHA:2380
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B... OMIM:618435
Osteosarcoma
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Joint swelling, Pathologi... ORPHA:668
Digitotalar Dysmorphism
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger OMIM:126050
Corpus Callosum, Agenesis Of
Camptodactyly, Joint contracture of the hand OMIM:217990
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Farber Lipogranulomatosis
Osteolytic defects of the phalanges of the hand, Limitation of knee mobility, Hyperextensibility ... OMIM:228000
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Rheumatoid Arthritis
Polyarticular arthritis, Interphalangeal joint erosions, Rheumatoid arthritis, Joint stiffness, D... OMIM:180300
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Elbow flexion contracture, Camptodactyly, Bilateral talipes equinovarus, Flexion ... OMIM:617194
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... ORPHA:93284
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
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Kn... ORPHA:93308
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A... OMIM:208250
Distal Arthrogryposis Type 1
Rocker bottom foot, Abnormal hip bone morphology, Joint stiffness, Camptodactyly of finger, Ulnar... ORPHA:1146
Majeed Syndrome
Bone pain, Delayed skeletal maturation, Flexion contracture, Joint swelling, Osteomyelitis OMIM:609628
Moderate Hemophilia A
Intramuscular hematoma, Arthropathy, Limitation of joint mobility, Synovitis, Hip contracture, Jo... ORPHA:169805
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the hand, Abnormal shoulder morphology, Abnormality of the wrist, ... ORPHA:85408
Familial Afibrinogenemia
Joint swelling ORPHA:98880
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Clinodactyly of the 5th finger, Short thumb, Camptodactyly OMIM:618453
Masa Syndrome
Camptodactyly of finger, Hand clenching, Clinodactyly of the 5th finger, Gait disturbance ORPHA:2466
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly ORPHA:1471
Hemophilia A
Abnormality of the elbow, Intramuscular hematoma, Joint hemorrhage, Joint swelling ORPHA:98878
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Tip-toe gait, Muscular dystrophy, Ankle flexion contracture, Difficulty walking, Calf muscle hype... ORPHA:267
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... OMIM:225280
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o... OMIM:108120
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Brachydactyly, Type B1
Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter... OMIM:113000
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Clubbing, Camptodactyly, Interphalangeal joint contracture o... ORPHA:2199
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pleural effusion ORPHA:85414
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger, Skeletal muscle atrophy, Mul... ORPHA:3294
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Camptodactyly, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small ... OMIM:211960
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Elbow flexion contracture, Scapular winging, Internally rotated should... OMIM:617468
Severe Hemophilia A
Intramuscular hematoma, Limitation of joint mobility, Synovitis, Joint hemorrhage, Limb joint con... ORPHA:169802
Congenital Myopathy 15
Osteopenia, Polyhydramnios, Waddling gait, Camptodactyly, Increased variability in muscle fiber d... OMIM:620161
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Camptodactyly of finger, Flexion contracture of toe, Gait ataxia OMIM:619323
Chromosome 20Q11-Q12 Deletion Syndrome
Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly OMIM:614257
Stiff Skin Syndrome
Elbow flexion contracture, Camptodactyly, Lipodystrophy, Knee flexion contracture, Limited should... OMIM:184900
Arthrogryposis, Impaired Intellectual Development, And Seizures
Knee dislocation, Camptodactyly of finger, Acetabular dysplasia, Arthrogryposis multiplex congeni... OMIM:615553
Wilson Disease
Abnormality of the hand, Difficulty walking, Pathologic fracture, Bone pain, Arthritis, Joint swe... ORPHA:905
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the legs, ... OMIM:249710
Pseudoleprechaunism Syndrome, Patterson Type
Genu valgum, Delayed pubic bone ossification, Metaphyseal sclerosis, Flat acetabular roof, Delaye... ORPHA:2976
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Clinodactyly of the 5th finger, Shoulder flexion contracture, Metacarpophalan... OMIM:619110
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis, Brachydactyly ORPHA:1937
Camptodactyly-Taurinuria Syndrome
Camptodactyly of toe, Camptodactyly of finger ORPHA:1325
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Genu recurvatum, ... ORPHA:2900
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
20Q11.2 Microdeletion Syndrome
Brachydactyly, Adducted thumb, Finger clinodactyly, Camptodactyly ORPHA:444051
Arthrogryposis, Distal, Type 2B3
Camptodactyly, Ulnar deviation of the hand, Adducted thumb, Hallux valgus, Overlapping fingers, T... OMIM:618436
Pachydermoperiostosis
Palmoplantar keratoderma, Avascular necrosis, Bone pain, Arthritis, Limitation of joint mobility,... ORPHA:2796
Spastic Paraplegia 20, Autosomal Recessive
Spastic gait, Difficulty walking, Hammertoe, Distal amyotrophy, Short foot, Camptodactyly, Ulnar ... OMIM:275900
Lyme Disease
Joint swelling, Arthritis ORPHA:91546
Blau Syndrome
Flexion contracture of toe, Arthritis, Cystoid macular edema, Tendonitis, Synovitis, Camptodactyl... OMIM:186580
Farber Disease
Short finger, Abnormality of the hand, Abnormality of the wrist, Hydrops fetalis, Arthritis, Asci... ORPHA:333
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... ORPHA:93320
Sillence Syndrome
Short finger, Chess-pawn distal phalanges, Large tarsal bones, Intervertebral disk degeneration, ... ORPHA:3168
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Whistling Face Syndrome, Recessive Form
Inguinal hernia, Shoulder flexion contracture, Elbow flexion contracture, Camptodactyly, Knee fle... OMIM:277720
Aase-Smith Syndrome
Abnormal hip bone morphology, Slender finger, Joint stiffness, Camptodactyly of finger, Aplasia/H... ORPHA:916
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthritis, Arthropathy, Osteoporosis, Joint stiffness, Decreased muscle mass, Joint swelling, Abn... ORPHA:465508
Multiple Epiphyseal Dysplasia Type 5
Ankle pain, Genu valgum, Difficulty walking, Intervertebral disk degeneration, Arthralgia of the ... ORPHA:93311
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Bow... ORPHA:2631
Hyperekplexia 4
Inguinal hernia, Camptodactyly, Distal arthrogryposis, Flexion contracture, Umbilical hernia, Add... OMIM:618011
Martsolf Syndrome 2
Camptodactyly of finger, Overlapping toe, Camptodactyly OMIM:619420
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Polyhydramnios, Camptodactyly, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:618393
Keipert Syndrome
Broad distal phalanx of finger, Camptodactyly, Broad thumb, Broad hallux, Brachydactyly, Joint hy... OMIM:301026
Autosomal Spastic Paraplegia Type 18
Ankle flexion contracture, Flexion contracture of toe, Inability to walk, Ankle clonus, Elbow fle... ORPHA:209951
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteomyelitis OMIM:612852
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy... ORPHA:1927
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand OMIM:603543
Erdheim-Chester Disease
Abnormal metaphysis morphology, Avascular necrosis, Increased bone mineral density, Bone pain, Pl... ORPHA:35687
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Perching Syndrome
Joint contracture, Camptodactyly OMIM:617055
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Spondylocamptodactyly Syndrome
Camptodactyly of finger ORPHA:3180
Myasthenic Syndrome, Congenital, 24, Presynaptic
Talipes equinovarus, Distal arthrogryposis, Camptodactyly, Knee flexion contracture OMIM:618198
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Polyhydramnios, Carpal osteolysi... ORPHA:2774
Uruguay Faciocardiomusculoskeletal Syndrome
Limited elbow movement, Difficulty walking, Skeletal muscle hypertrophy, Dislocation of toes, Wad... OMIM:300280
Arthrogryposis, Distal, Type 4
Osteopenia, Tibial deviation of toes, Torticollis, Camptodactyly of 2nd-5th fingers, Single trans... OMIM:609128
Adult-Onset Still Disease
Joint swelling, Cartilage destruction, Arthralgia/arthritis, Arthritis ORPHA:829
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Gait disturbance, Micromelia, Camptodactyly of finger, Br... ORPHA:2928
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Metaphyseal sclerosis, Rheumatoid arthritis, Metaphyseal widening, Metaphyseal... OMIM:607944
Joubert Syndrome 18
Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident pelvis, Joint hypermobili... OMIM:614815
Contractural Arachnodactyly, Congenital
Limited elbow extension, Osteopenia, Elbow flexion contracture, Bowing of the long bones, Camptod... OMIM:121050
Mixed Connective Tissue Disease
Avascular necrosis, Myositis, Arthritis, Xerostomia, Joint stiffness, Joint swelling, Osteolysis ORPHA:809
Partington Syndrome
Flexion contracture, Camptodactyly OMIM:309510
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Short 2nd toe, Camptodactyly of finger, Short 3rd toe, Talipe... ORPHA:1326
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Reactive Arthritis
Arthritis, Joint stiffness, Enthesitis, Joint swelling, Cartilage destruction, Osteomyelitis ORPHA:29207
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cubitus valgus, Down-sloping shoulders, Camptodactyly, Knee flexion contracture OMIM:619694
Bethlem Muscular Dystrophy
Wrist flexion contracture, Cigarette-paper scars, Limb-girdle muscle weakness, Joint hypermobilit... ORPHA:610
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Wrist flexion contracture, Flexion contracture of... OMIM:193700
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Joint swelling, Panniculitis, Lipodystrophy OMIM:617099
Moebius Syndrome
Congenital fibrosis of extraocular muscles, Radial deviation of finger, Dysdiadochokinesis, Facia... OMIM:157900
Monosomy 22
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Joi... ORPHA:96123
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Alkaptonuria
Reduced bone mineral density, Joint dislocation, Arthritis, Thickened Achilles tendon, Joint stif... ORPHA:56
Pseudodiastrophic Dysplasia
Rhizomelia, Camptodactyly, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus OMIM:264180
Congenital Myopathy 12
Polyhydramnios, Akinesia, Camptodactyly, Jaw contracture, Arachnodactyly, Overlapping fingers, Jo... OMIM:612540
Larsen-Like Syndrome, Lethal Type
Multiple joint dislocation, Abnormal cartilage matrix, Joint dislocation OMIM:245650
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Accelerated skeletal maturati... ORPHA:93307
Frontonasal Dysplasia 1
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Frontal cutaneous lipoma, Postaxi... OMIM:136760
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Inguinal hernia, Facial hypotonia, Atrophic scars, Camptodactyly, Bilateral talipes equinovarus, ... OMIM:615539
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Polyphagia, Cognitive impairment, Obesity, Attention deficit... ORPHA:369873
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Polyarticular arthropathy, Asci... ORPHA:2848
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Camptodactyly, Ataxia, Flexion contracture of finger, Skeletal muscle atrophy, ... OMIM:609033
Catifa Syndrome
Inguinal hernia, Gait disturbance, Camptodactyly OMIM:618761
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Camptodactyly, Arthrogrypos... OMIM:614262
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Second metatarsal posteriorly placed, Elbow flexion contracture, Dehydration,... OMIM:214150
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... ORPHA:957
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Short long bone, Limitation of joint mobility, Bowing of the long b... OMIM:224400
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... OMIM:300244
Arthrogryposis, Distal, Type 5D
Hypermobility of distal interphalangeal joints, Limited elbow movement, Talipes equinovarus, Elbo... OMIM:615065
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Stuve-Wiedemann Syndrome 2
Short long bone, Bowing of the long bones, Camptodactyly OMIM:619751
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... OMIM:201000
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Ankle flexion contracture, Upper limb undergrowth, Camptodactyly, Short palm,... OMIM:608799
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Inability to walk, Sandal gap, Broad-based gait, Upper limb muscle weakness, Camptodactyly, Arach... OMIM:617146
Systemic Sclerosis
Osteolytic defects of the phalanges of the hand, Arthritis, Joint swelling, Flexion contracture, ... ORPHA:90291
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Accelerated skeletal maturation, Syndactyly, Umbilical hernia, Craniosynostosis, Ing... OMIM:175700
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Metaphyseal irregularity, Joint hypermobility, Short 4th metacar... OMIM:618019
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Inguinal hernia, Elbow flexion contrac... OMIM:178110
Schaaf-Yang Syndrome
Rocker bottom foot, Inability to walk, Tapered finger, Short foot, Camptodactyly, Narrow palm, Fl... OMIM:615547
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Inguinal hernia, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Congenital c... OMIM:616266
Fibrochondrogenesis 1
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Hydrops fetalis,... OMIM:228520
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia OMIM:614736
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rh... ORPHA:56304
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Arachnodactyly, Synd... OMIM:265000
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Camptobrachydactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:1319
W Syndrome
Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Radial bowing, Elbow ... ORPHA:2804
Warburg-Cinotti Syndrome
Ankle flexion contracture, Osteolytic defects of the phalanges of the hand, Elbow flexion contrac... OMIM:618175
Chikungunya
Arthritis, Knee pain, Synovitis, Joint stiffness, Enthesitis, Osteolysis, Joint swelling, Ankle j... ORPHA:324625
Imagawa-Matsumoto Syndrome
Camptodactyly, Accelerated skeletal maturation, Large hands, Umbilical hernia, Clinodactyly OMIM:618786
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Sac... ORPHA:435938
Crisponi/Cold-Induced Sweating Syndrome 1
Limited elbow extension, Radial deviation of finger, Elbow flexion contracture, Facial palsy, Cam... OMIM:272430
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Camptodactyly of finger, Increased variability in ... OMIM:617072
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Pathologic ... OMIM:601559
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Joint dislocation, Tapered finger, Camptodactyly of finger, Aplasia/Hypopla... ORPHA:3201
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Flexion contracture of toe, Flared metaphysis, Dislocated radial head, Slende... OMIM:610758
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:177735
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Camptodactyly, Gait ataxia, Gait disturbance, Ataxia, Flexion contracture of finger, Osteomyelitis ORPHA:88628
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:264350
Arthrogryposis, Distal, Type 3
Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, Decreased... OMIM:114300
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Difficulty walking, Abnormal fear-induced behavior, Agitation, Increas... ORPHA:100924
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556037
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Lymphedema, Osteoporosis, Syndactyly, Camptodactyly OMIM:616006
Classical Ehlers-Danlos Syndrome
Limb pain, Generalized joint hypermobility, Osteopenia, Inguinal hernia, Dislocated radial head, ... ORPHA:287
Spinocerebellar Ataxia, Autosomal Recessive 20
Inability to walk, Camptodactyly, Ataxia, Brachydactyly, Macroglossia, Clinodactyly, Talipes equi... OMIM:616354
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Multiple joint dislocation, Internally rotated shoulders, Joint hypermobility, Oligohydramnios, T... OMIM:619503
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Arthritis, Clubbing, Pleural effusion, Angioedema, Swelling of proximal interphal... ORPHA:3260
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Limited knee extens... OMIM:277590
Wieacker-Wolff Syndrome
Proximal placement of thumb, Congenital foot contractures, Distal amyotrophy, Facial palsy, Campt... OMIM:314580
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Femoral bo... OMIM:207410
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level ORPHA:556030
Oculocerebrorenal Syndrome Of Lowe
Abnormal metaphysis morphology, Genu valgum, Inguinal hernia, Arthritis, Osteomalacia, Abnormal d... ORPHA:534
Renal Hypoplasia, Bilateral
Hyperkalemia, Glycosuria, Hyponatremia, Failure to thrive, Lethargy, Small for gestational age ORPHA:97362
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Inguinal hernia, Single transverse palmar crease, Diastasis recti, Wrist flexion ... ORPHA:254528
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Talipes equinovarus, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Split-Hand/Foot Malformation 3
Split hand, Camptodactyly OMIM:246560
Cousin Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Rhizomelia, Disloca... OMIM:260660
Schwartz-Jampel Syndrome, Type 1
Flexion contracture of toe, Wrist flexion contracture, Delayed skeletal maturation, Umbilical her... OMIM:255800
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... ORPHA:171876
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... ORPHA:682
Acromegaly
Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Deep palmar cre... ORPHA:963
Somatomammotropinoma
Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Deep palmar cre... ORPHA:314769
Ritscher-Schinzel Syndrome 2
Clinodactyly of the 5th finger, Wide anterior fontanel, Prominent fingertip pads, Camptodactyly, ... OMIM:300963
Alg8-Cdg
Hydrops fetalis, Ascites, Camptodactyly, Ataxia, Brachydactyly, Edema, Macroglossia, Oligohydramn... ORPHA:79325
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Camptodactyly, Joint contracture of the hand OMIM:179613
Urban-Rogers-Meyer Syndrome
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr... ORPHA:3409
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Blau Syndrome
Polyarticular arthritis, Limitation of joint mobility, Facial palsy, Synovitis, Camptodactyly of ... ORPHA:90340
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Familial Hypoaldosteronism
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Lethargy ORPHA:427
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Cubitus valgus, Single transverse palmar crease, Camptodactyly, Metatarsus adduc... OMIM:214110
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Short clavicles, Delayed cranial suture closure, Osteolytic defects of th... OMIM:248370
Birk-Landau-Perez Syndrome
Limb ataxia, Hyperkalemia, Difficulty walking, Failure to thrive in infancy, Increased circulatin... OMIM:617595
Familial Glucocorticoid Deficiency
Anorexia, Hypoglycemic seizures, Hyperkalemia, Ketotic hypoglycemia, Failure to thrive, Hyponatre... ORPHA:361
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Sandestig-Stefanova Syndrome
Rocker bottom foot, Bilateral single transverse palmar creases, Camptodactyly, Prominent metopic ... OMIM:618804
Camptobrachydactyly
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly OMIM:114150
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Stevenson-Carey Syndrome
Joint contracture of the hand, Camptodactyly, Hip dysplasia OMIM:611961
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Pleural effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pericar... OMIM:617822
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Polyhydramnios, Limitation of knee mobility, Hammertoe, Inguinal hernia, Akin... OMIM:618947
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus deformity, Camptodactyly, A... ORPHA:562528
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Dpm1-Cdg
Muscular dystrophy, Sandal gap, Camptodactyly, Long hallux, Limb undergrowth, Ataxia, Knee flexio... ORPHA:79322
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Marden-Walker Syndrome
Inguinal hernia, Wide anterior fontanel, Camptodactyly, Congenital contracture, Arachnodactyly, D... OMIM:248700
Meier-Gorlin Syndrome 1
Absent sternal ossification, Delayed skeletal maturation, Joint hypermobility, Coxa valga, Genu v... OMIM:224690
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Arthrogryposis-like hand anomaly, Camptodactyly, Ataxia, Syndactyly, Umb... ORPHA:369891
Van Maldergem Syndrome 1
Osteopenia, Short 4th metacarpal, Tracheomalacia, Wide anterior fontanel, Short clavicles, Campto... OMIM:601390
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Camptodactyly, Joint contracture of the hand OMIM:608257
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Failure to thrive, Lethargy, Hypokalemia OMIM:611590
Bohring-Opitz Syndrome
Polyhydramnios, Deep palmar crease, Joint dislocation, Dislocated radial head, Mesomelic/rhizomel... OMIM:605039
Cystinosis
Polydipsia, Hypokalemia, Gait disturbance, Failure to thrive, Hypophosphatemia, Motor stereotypy,... ORPHA:213
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Joint contracture of the hand, Spina bifida occulta, ... OMIM:235510
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Single transverse palmar crease, Clinodactyly, Camptodactyly OMIM:613604
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Mucolipidosis Ii Alpha/Beta
Palpebral edema, Short long bone, Flat acetabular roof, Flared iliac wing, Bullet-shaped phalange... OMIM:252500
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Rhizomelia, Single transverse palmar crease, Short long bone, Camptodactyly, Left ven... OMIM:611209
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Inability to walk, Camptodactyly, Clinodactyly, Ataxia, Tapered finger, Dysmetria OMIM:619576
Rahman Syndrome
Talipes equinovarus, Accelerated skeletal maturation, Camptodactyly OMIM:617537
Acute Adrenal Insufficiency
Anorexia, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Failure to thrive, Hypo... ORPHA:95409
Genetic Recurrent Myoglobinuria
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Impaired glucose tolerance, Obes... OMIM:219090
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Tibial bowing, Femoral bowing, Camptodactyly... OMIM:231070
Brittle Cornea Syndrome
Corneal scarring, Camptodactyly, Osteoporosis, Gait disturbance, Arachnodactyly, Hip dysplasia, A... ORPHA:90354
Camptodactyly Syndrome, Guadalajara, Type Iii
Torticollis, Spina bifida occulta, Absent phalangeal crease, Camptodactyly, Delayed skeletal matu... OMIM:611929
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Palpebral edema, Broad-based gait, Camptodactyly, Ataxia, Brachydactyly, Macroglossia, Clinodacty... ORPHA:397709
Congenital Disorder Of Glycosylation, Type Ih
Ascites, Camptodactyly, Edema, Oligohydramnios, Talipes equinovarus OMIM:608104
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Sandal gap, Prominent fingertip pads, Camptodactyly, Omphalocele, Broad thumb, Me... OMIM:618529
Hunter-Macdonald Syndrome
Clinodactyly of the 5th finger, Cubitus valgus, Inguinal hernia, 2-3 toe syndactyly, Delayed cran... OMIM:611962
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu valgum, Inguinal hernia, Dislocated radial head, Wide anterior fontanel, Genu re... OMIM:182212
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly, Hip dysplasia, Upper eyelid edema, Hemihypotrophy... ORPHA:412035
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Slender long bone, Single transverse palmar crease, Camptodactyly, Delay... OMIM:613385
Meier-Gorlin Syndrome 2
Slender long bone, Tracheomalacia, Camptodactyly, Delayed skeletal maturation, Patellar aplasia, ... OMIM:613800
Basilicata-Akhtar Syndrome
Single transverse palmar crease, Camptodactyly, Short palm, Adducted thumb, Short foot OMIM:301032
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Meckel Syndrome, Type 10
Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Po... OMIM:614175
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Flexion contracture, Camptodactyly OMIM:604273
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased body weight OMIM:617053
Mody
Large for gestational age, Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, H... ORPHA:552
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration OMIM:620366
Addison Disease
Anorexia, Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Failure t... ORPHA:85138
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Braddock-Carey Syndrome 1
Camptodactyly, Enamel hypoplasia, Clinodactyly, Talipes equinovarus, Small hand OMIM:619980
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l... ORPHA:79102
Glutamine Deficiency, Congenital
Flexion contracture, Camptodactyly, Micromelia OMIM:610015
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Delaye... OMIM:268310
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Bilateral single transverse palmar creases, Inguinal hernia, Camptodactyly, Sagittal craniosynost... ORPHA:459061
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Arthritis, Osteomalacia, Osteomyelitis OMIM:619381
East Syndrome
Polydipsia, Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level... ORPHA:199343
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level, Failure to thrive, Hypona... ORPHA:90791
Opitz-Kaveggia Syndrome
Radial deviation of finger, Inguinal hernia, Wide anterior fontanel, Single transverse palmar cre... OMIM:305450
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Confusion, Addictive alcohol use, Ataxia, Euphoria ORPHA:31826
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating renin level, Small for gestational age, Hypokalemia OMIM:218030
Chromosome 13Q33-Q34 Deletion Syndrome
Single transverse palmar crease, Small thenar eminence, Camptodactyly, Prominent metopic ridge, D... OMIM:619148
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Joint dislocation, Inguinal hernia, Single transvers... OMIM:616145
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia ORPHA:90790
Chromosome 2P16.1-P15 Deletion Syndrome
Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Arachnodactyly, Joint contracture o... OMIM:612513
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint hypermobility, Arachnodactyly, Talipes equinovarus, Camptodactyly OMIM:301039
Frank-Ter Haar Syndrome
Osteopenia, Flared metaphysis, Wide anterior fontanel, Wormian bones, Short long bone, Delayed cr... OMIM:249420
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Polyhydramnios, Flexion contracture of toe, Clinodactyly of ... OMIM:300373
Myhre Syndrome
Short finger, Radial deviation of finger, Skeletal muscle hypertrophy, Hypoplastic iliac wing, 2-... OMIM:139210
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Alg12-Cdg
Abnormal bone ossification, Polyhydramnios, Clinodactyly of the 5th finger, Proximal placement of... ORPHA:79324
Histiocytosis-Lymphadenopathy Plus Syndrome
Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexio... OMIM:602782
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Short meta... OMIM:617137
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Camptodactyly, Skeletal muscle atrophy, Atypical scarring of s... OMIM:601701
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Calvarial osteosclerosis, Camptodactyly, Broad thumb,... OMIM:616331
Meester-Loeys Syndrome
Broad distal phalanx of finger, Joint dislocation, Camptodactyly, Arachnodactyly, Joint contractu... OMIM:300989
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Cachexia, Cognitive impairment, Failure to thrive, Hyponatrem... ORPHA:275761
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Inguinal hernia, Short foot, Camptodactyly, Metatarsus adductus, ... OMIM:227330
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Tracheomalacia, Lymphedema, Camptodactyly, Ataxia, Syndactyly, Tali... ORPHA:314679
Cholera
Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglyc... ORPHA:173
Galloway-Mowat Syndrome 3
Camptodactyly, Arachnodactyly, Edema, Oligohydramnios, Hiatus hernia, Hip dislocation OMIM:617729
Native American Myopathy
Abnormality of skeletal muscle fiber size, Inability to walk, Camptodactyly, Congenital contractu... ORPHA:168572
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Inguinal hernia, Lymphedema, Tapered finger, Camptodactyly, Ataxia, ... OMIM:616737
Peroxisome Biogenesis Disorder 5A (Zellweger)
Palpebral edema, Cubitus valgus, Epiphyseal stippling, Wide anterior fontanel, Single transverse ... OMIM:614866
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Camptodactyly of toe, Arachnodactyly, Wide femoral metaphysis, Camptodactyly OMIM:610474
Distal Triplication 15Q
Camptodactyly, Arachnodactyly, Flexion contracture, Craniosynostosis, Hernia ORPHA:314588
Sarcoidosis
Scarring, Chylothorax, Facial palsy, Pleural effusion, Joint swelling ORPHA:797
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Adrenocortical Carcinoma
Irritability, Hypokalemia, Increased body weight, Weight loss, Diabetes mellitus ORPHA:1501
Van Den Ende-Gupta Syndrome
Dislocated radial head, Femoral bowing, Arachnodactyly, Slender metacarpals, Craniosynostosis, 2-... OMIM:600920
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Polyhydramnios, Clinodactyly of the 5th finger, Deep palmar crease, Inguinal hernia,... OMIM:247200
Glass Syndrome
Anterior tibial bowing, Inguinal hernia, Facial hypotonia, Broad-based gait, Camptodactyly, Gener... OMIM:612313
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Ataxia, Inability to walk, Conjugated hyperbilirubinemia OMIM:608885
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia OMIM:602722
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Polyhydramnios, Spina bifida occulta, Camptodactyly, Joint hypermobility, Clinodactyly OMIM:617360
Galloway-Mowat Syndrome 1
Talipes equinovarus, Camptodactyly, Slender finger, Hand clenching, Ataxia, Oligohydramnios, Hiat... OMIM:251300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia OMIM:175500
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia, Postprandial hyperglycemia ORPHA:681
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... ORPHA:96334
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral di... OMIM:619656
Nablus Mask-Like Facial Syndrome
Sandal gap, Short hallux, Single transverse palmar crease, Camptodactyly, Clinodactyly, Craniosyn... OMIM:608156
Cohen-Gibson Syndrome
Osteopenia, Flared metaphysis, Hypoplastic iliac wing, Camptodactyly, Gait disturbance, Broad thu... OMIM:617561
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia, Chondrocalcinosis OMIM:154020
Aymé-Gripp Syndrome
Rocker bottom foot, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Inguinal her... ORPHA:1272
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Ataxia... ORPHA:466650
Tetrasomy 15Q26
Arachnodactyly, Camptodactyly OMIM:614846
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Duane Retraction Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypoplasia of the th... ORPHA:233
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Clinodactyly of the 5th fing... OMIM:280000
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of hallux, Proximal placement of thumb, Sandal gap, Inguin... OMIM:613458
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Atrophic scars, Camptodactyly, Slender finger, Bilateral talipes equinovarus, Long fingers, Joint... OMIM:618343
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Gitelman Syndrome
Polydipsia, Hypokalemia, Increased circulating renin level, Failure to thrive, Ataxia, Hypomagnes... OMIM:263800
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... ORPHA:289548
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Camptodactyly, Arach... OMIM:617602
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia, Hyperbi... OMIM:227810
21Q22.11Q22.12 Microdeletion Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Camptodactyly, Delayed skeletal maturation, S... ORPHA:261323
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Agitation, Confusion, Decreased body weight, Hyperphosphatemia, Elevated circulatin... ORPHA:340
Infantile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Cognitive impairment, Glycosuria, Failure to thrive, Hypophosphatemia, A... ORPHA:411629
Liddle Syndrome
Hypokalemia ORPHA:526
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Camptodactyly, Osteoporosis, Arachnodactyly, Decreased muscle mass, Cerebral e... ORPHA:3063
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive, Decreased circulating renin level, Hypokalemia ORPHA:320
Trisomy 10P
Abnormality of the hand, Ulnar deviated club hands, Thumb contracture, Camptodactyly, Decreased m... ORPHA:171929
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Camptodactyly, Flexion contracture, 3-4 finger cutaneous syndactyly... OMIM:620029
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
H Syndrome
Camptodactyly, Delayed skeletal maturation, Lipodystrophy, Hallux valgus, Hernia, Recurrent fract... ORPHA:168569
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia, Septic arthritis, Diabetes mellitus ORPHA:544482
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Failure to thrive, Hyponatremia OMIM:214700
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Camptodactyly, Metatarsus ... OMIM:272950
Dpagt1-Cdg
Akinesia, Inability to walk, Osteoporosis, Camptodactyly, Arachnodactyly, Ataxia, Lipodystrophy, ... ORPHA:86309
Marfan Syndrome
Limited elbow extension, Hammertoe, Genu recurvatum, Incisional hernia, Camptodactyly, Metatarsus... OMIM:154700
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Hypokalemia OMIM:604278
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Mercury Poisoning
Anorexia, Confusion, Hypokalemia ORPHA:330021
Cardiofacioneurodevelopmental Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Camptodactyly OMIM:619123
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Ataxia, Hypomagne... OMIM:612780
Cystinosis, Nephropathic
Polydipsia, Genu valgum, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decr... OMIM:219800
Gitelman Syndrome
Polydipsia, Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Failure to thrive, Hyp... ORPHA:358
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Polyhydramnios, Pterygium, Finger syndactyly, Cal... OMIM:256520
Cutis Laxa, Autosomal Recessive, Type Iid
Inguinal hernia, Camptodactyly, Reduced subcutaneous adipose tissue, Joint contracture, Hip dyspl... OMIM:617403
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Carpenter Syndrome 2
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... OMIM:614976
Fryns Syndrome
Rocker bottom foot, Polyhydramnios, Proximal placement of thumb, Chylothorax, Single transverse p... OMIM:229850
Familial Hyperaldosteronism Type I
Polydipsia, Hypokalemia ORPHA:403
Rabson-Mendenhall Syndrome
Polydipsia, Fasting hypoglycemia, Hypokalemia, Impaired glucose tolerance, Increased C-peptide le... ORPHA:769
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Glycosuria, Failure to thrive, Hyponatremia,... ORPHA:411634
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Camptodactyly ORPHA:363444
Robinow Syndrome, Autosomal Dominant 3
Camptodactyly, Omphalocele, Broad thumb, Short phalanx of finger, Mesomelia, Syndactyly, Brachyda... OMIM:616894
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Rocker bottom foot, Camptodactyly, Brachydactyly, Finger clinodactyly, Tapered finger OMIM:601353
Chromosome 8Q21.11 Deletion Syndrome
Camptodactyly, Short metacarpal, Syndactyly, Absent palmar crease OMIM:614230
Bartter Syndrome Type 4
Severe failure to thrive, Hypokalemia, Emotional lability, Hypochloremia, Increased circulating r... ORPHA:89938
Fanconi Renotubular Syndrome 1
Glycosuria, Hypophosphatemia, Hypokalemia OMIM:134600
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Craniosynostosis, Tapered finger, Short foot, Camptodactyly, Delayed skeletal maturation, Skeleta... OMIM:309590
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Tapered finger, Short foot, Camptodactyly, Broad hallux, Contrac... OMIM:301044
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Decreased circulating renin level, Hypokalemia OMIM:613677
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Osteoporosis, Camptodactyly, Delayed skeletal maturation, Generalized joint hypermobi... ORPHA:432
Ayme-Gripp Syndrome
Delayed cranial suture closure, Camptodactyly, Brachydactyly, Radioulnar synostosis, Tapered finger OMIM:601088
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Inguinal hernia, Lymphedema, Tapered finger, Camptodactyly, Flexion ... ORPHA:487796
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Spina bifida occulta, Inguinal hernia, Tibial bowing, Abnormal femoral... ORPHA:500095
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Athetosis, Hypokalemia ORPHA:369929
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Congenital hip dislocation, Hyponatremi... OMIM:617913
Schinzel-Giedion Syndrome
Stiff elbow, Inguinal hernia, Hypoplastic pubic bone, Wide anterior fontanel, Wormian bones, Tibi... ORPHA:798
Loeys-Dietz Syndrome 2
Inguinal hernia, Absent distal phalanges, Camptodactyly, Osteoporosis, Postaxial polydactyly, Ara... OMIM:610168
Cutis Laxa, Autosomal Recessive, Type Iic
Hip dysplasia, Camptodactyly, Reduced subcutaneous adipose tissue, Hand clenching, Knee flexion c... OMIM:617402
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia ORPHA:251274
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia OMIM:613090
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Failure to thrive, Hyponatremia, Weight loss ORPHA:90794
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Clinodactyly, Camptodactyly ORPHA:228426
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Corticosteroid-Binding Globulin Deficiency
Reduced circulating cortisol-binding globulin concentration, Hypokalemia OMIM:611489
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Hypokalemia ORPHA:231580
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Tarsal synostosis, Decreased circulating renin level, Humeroradial synostosis, Hypo... OMIM:201750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Clinodactyly of the 5th finger, Joint hypermobility, Single transverse palmar crease, Prominent f... OMIM:612474
Loeys-Dietz Syndrome 3
Osteopenia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Ingu... OMIM:613795
Osteootohepatoenteric Syndrome
Failure to thrive, Hypokalemia, Increased serum bile acid concentration, Weight loss OMIM:619377
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failure to thrive... OMIM:601678
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Glycosuria, Ataxia, Dysphagia, Hypophosphatemia, Hypo... ORPHA:699
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Athetosis, Hypokalemia OMIM:615474
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Failu... OMIM:241200
Marburg Hemorrhagic Fever
Anorexia, Elevated circulating creatinine concentration, Hypokalemia, Arthritis, Confusion, Hyper... ORPHA:99826
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Failure to thrive, Hyponatremia OMIM:602522
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Loeys-Dietz Syndrome 1
Inguinal hernia, Hypoplasia of the musculature, Postaxial hand polydactyly, Camptodactyly, Postax... OMIM:609192
Helix Syndrome
Polydipsia, Hypermagnesemia, Hypokalemia OMIM:617671
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating cr... ORPHA:90038
Vipoma
Anorexia, Hypokalemia, Hypercalcemia, Weight loss, Diabetes mellitus ORPHA:97282
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Abnormal cartilage matrix ORPHA:2347
Renpenning Syndrome 1
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Clinodactyly of the 5th ... OMIM:309500
Juvenile Polyposis Syndrome
Failure to thrive, Hypoalbuminemia, Hypokalemia OMIM:174900
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Increased circulating... ORPHA:508
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Chromosome 1P36 Deletion Syndrome, Distal
Clinodactyly of the 5th finger, Wide anterior fontanel, Camptodactyly, Metatarsus adductus, Campt... OMIM:607872
Andersen Cardiodysrhythmic Periodic Paralysis
Depression, Hypokalemia OMIM:170390
Ablepharon-Macrostomia Syndrome
Clinodactyly of the 5th finger, Ventral hernia, Short metacarpal, Camptodactyly, Omphalocele, Cut... OMIM:200110
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia, Ataxia, Hypokalemia OMIM:618426
Chromosome 1P36 Deletion Syndrome, Proximal
Clinodactyly, Camptodactyly OMIM:619343
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353281
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia, Ataxia, Re... ORPHA:466677
Proximal Renal Tubular Acidosis
Polydipsia, Bicarbonaturia, Hypokalemia, Glycosuria, Failure to thrive ORPHA:47159
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Genu valgum, Right unicoronal synostosis, Inability to walk, Broad-based gait, Hallux valgus, Cal... ORPHA:261537
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Failure to thrive, Decreased circulating renin level, Hypokalemia ORPHA:90793
Mowat-Wilson Syndrome
Genu valgum, Inability to walk, Broad-based gait, Hallux valgus, Recurrent fractures, Calcaneoval... ORPHA:2152
Distal Renal Tubular Acidosis
Polydipsia, Failure to thrive, Hypokalemia ORPHA:18
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperchloriduria, Hypokalemia OMIM:607364
Multiple Osteochondromas
Talipes valgus, Abnormal carpal morphology, Genu valgum, Limitation of knee mobility, Arthritis, ... ORPHA:321
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Genu valgum, Right unicoronal synostosis, Inability to walk, Broad-based gait, Hallux valgus, Cal... ORPHA:261552
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Nelson Syndrome
Type II diabetes mellitus, Hypokalemia ORPHA:199244
Microphthalmia, Syndromic 1
Radial deviation of finger, Short clavicles, Prominent fingertip pads, Camptodactyly, Abnormal pa... OMIM:309800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Aggressive behavior, Emotional lability, Hyperactivity, Compulsiv... ORPHA:353277
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Small for gestationa... OMIM:619573
Encephalocraniocutaneous Lipomatosis
Osteochondrosis, Abnormal cartilage morphology ORPHA:2396
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Hypokalemia ORPHA:786
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
Vascular Ehlers-Danlos Syndrome
Hypokalemia, Joint dislocation, Congenital hip dislocation, Cognitive impairment, 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.

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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