DA3
MCID: ART120
MIFTS: 49

Arthrogryposis, Distal, Type 3 (DA3)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 3

MalaCards integrated aliases for Arthrogryposis, Distal, Type 3:

Name: Arthrogryposis, Distal, Type 3 57 39
Gordon Syndrome 57 12 74 20 58 73 54 44
Arthrogryposis Multiplex Congenita, Distal, Type Iia 57 73 6 71
Distal Arthrogryposis Type 3 12 20 58 15
Da3 57 12 20 73
Camptodactyly, Cleft Palate, and Clubfoot 57 20 73
Camptodactyly-Cleft Palate-Clubfoot Syndrome 12 58
Distal Arthrogryposis Multiplex Congenita Type Iia 12
Pseudohypoaldosteronism, Type Ii 71
Distal Arthrogryposis Type Iia 58
Arthrogryposis Distal Type 3 20
Arthrogryposis, Distal, 3 73

Characteristics:

Orphanet epidemiological data:

58
gordon syndrome
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present
mild form may be comprised of short stature, clubfeet, and distal contractures


HPO:

31
arthrogryposis, distal, type 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Arthrogryposis, Distal, Type 3

GARD : 20 Gordon Syndrome is a rare, inherited disorder that affects movement in the joints of the upper and lower limbs, also known as distal arthrogryposis. People with this disorder can be born with several fingers fixed in a flexed position (camptodactyly), clubfoot, and an opening in the roof of the mouth (cleft palate). Their joints are often very stiff or unable to move. Intelligence is usually normal. The range and severity of symptoms may vary from person to person. Gordon syndrome is caused by genetic changes (mutations) in the PIEZO2 gene and can be inherited in an autosomal dominant pattern. Gordon syndrome is diagnosed by clinical examination and genetic testing. Treatment is directed at the symptoms and includes surgery and physical therapy to loosen the joints. People with Gordon syndrome often have reduced mobility, but Gordon syndrome doesn't usually result in other health problems.

MalaCards based summary : Arthrogryposis, Distal, Type 3, also known as gordon syndrome, is related to arthrogryposis, distal, type 5 and metabolic acidosis. An important gene associated with Arthrogryposis, Distal, Type 3 is PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. Affiliated tissues include cerebellum, brain and kidney, and related phenotypes are talipes and camptodactyly of finger

Disease Ontology : 12 A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has material basis in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21.

OMIM® : 57 DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA3 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 5 (DA5; 108145) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of ocular abnormalities and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition. For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). (114300) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Arthrogryposis, distal, 3: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate.

Wikipedia : 74 Arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its... more...

Related Diseases for Arthrogryposis, Distal, Type 3

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 1a Arthrogryposis, Distal, Type 5
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 2e Arthrogryposis, Distal, Type 7
Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 2a
Arthrogryposis, Distal, Type 2b1 Arthrogryposis, Distal, Type 4
Arthrogryposis, Distal, Type 1b Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b2 Arthrogryposis, Distal, Type 2b3
Arthrogryposis, Distal, Type 1c

Diseases related to Arthrogryposis, Distal, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 5 31.4 PIEZO2 PIEZO1 H2AC18
2 metabolic acidosis 30.2 WNK4 WNK1 KLHL3 CUL3
3 pseudohypoaldosteronism, type iie 30.1 WNK4 WNK1 PIEZO2 KLHL3 CUL3
4 familial hypertension 29.6 WNK4 WNK1 REN NR3C2 KLHL3 CUL3
5 pseudohypoaldosteronism 29.4 WNK4 WNK1 SLC12A3 REN NR3C2 KLHL3
6 gitelman syndrome 28.7 WNK4 WNK3 WNK1 STK39 STK24 SLC12A3
7 distal arthrogryposis 26.6 WNK4 WNK3 WNK1 VEZF1 SVEP1 STK39
8 baker-gordon syndrome 11.5
9 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy 11.3
10 pseudohypoaldosteronism, type iid 11.0
11 marden-walker syndrome 10.9
12 cleft palate, isolated 10.3
13 left bundle branch hemiblock 10.2 REN NR3C2
14 renal hypertension 10.2 SLC12A3 REN NR3C2
15 hypomagnesemia 5, renal, with or without ocular involvement 10.2 SLC12A1 KCNJ1
16 congenital amyoplasia 10.2
17 neuropathy, hereditary sensory and autonomic, type iib 10.2 WNK1 STK39
18 pseudohypoaldosteronism, type i, autosomal dominant 10.2 REN NR3C2 CUL3
19 acute cystitis 10.2 REN NR3C2 H2AC18
20 bartter syndrome, type 1, antenatal 10.2 SLC12A3 SLC12A1 KCNJ1
21 endocrine organ benign neoplasm 10.2 REN NR3C2 H2AC18
22 bartter syndrome, type 2, antenatal 10.2 SLC12A1 KCNJ1
23 heart valve disease 10.1 REN NR3C2 H2AC18
24 hyperaldosteronism, familial, type i 10.1 WNK4 WNK1 REN NR3C2
25 antenatal bartter syndrome 10.1 SLC12A1 REN KCNJ1
26 hypomagnesemia 4, renal 10.1 WNK3 OXSR1
27 agenesis of the corpus callosum with peripheral neuropathy 10.1 WNK3 STK39 SLC12A1
28 apparent mineralocorticoid excess 10.1 WNK4 REN NR3C2 KCNJ1
29 hypertensive retinopathy 10.1 VEZF1 REN NR3C2
30 nephrocalcinosis 10.1 SLC12A3 SLC12A1 KCNJ1
31 primary hypomagnesemia 10.1 SLC12A1 KCNJ1
32 bartter syndrome, type 3 10.1 SLC12A3 SLC12A1 REN KCNJ1
33 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 STK39 SLC12A3 SLC12A1 KCNJ1
34 diabetes insipidus, nephrogenic, autosomal 10.0 SLC12A3 SLC12A1 REN KCNJ1
35 arthrogryposis, distal, type 4 10.0 VEZF1 AWAT2
36 pseudohypoaldosteronism, type i, autosomal recessive 10.0 REN NR3C2 KCNJ1 CUL3
37 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 WNK4 WNK1 REN NR3C2 KCNJ1
38 placenta disease 10.0 SLC12A1 REN KCNJ1 H2AC18
39 neuropathy, hereditary sensory and autonomic, type iia 10.0 WNK4 WNK1 STK39
40 pseudohypoaldosteronism, type iia 10.0
41 hypokalemia 10.0 SLC12A3 SLC12A1 REN NR3C2 KCNJ1
42 cerebral artery occlusion 9.9
43 status epilepticus 9.9
44 ischemia 9.9
45 breast adenocarcinoma 9.9
46 polyhydramnios 9.9 SLC12A3 SLC12A1 PIEZO1 KCNJ1
47 mineral metabolism disease 9.8 SLC12A3 SLC12A1 REN NR3C2 KCNJ1 H2AC18
48 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
49 epicanthus 9.8
50 aase-smith syndrome i 9.8

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 3:



Diseases related to Arthrogryposis, Distal, Type 3

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 3

Human phenotypes related to Arthrogryposis, Distal, Type 3:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 talipes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001883
2 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
3 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
4 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
5 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
6 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
7 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
8 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
9 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
10 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
11 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
12 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
13 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
14 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
15 ophthalmoplegia 31 occasional (7.5%) HP:0000602
16 global developmental delay 31 very rare (1%) HP:0001263
17 intellectual disability, mild 31 very rare (1%) HP:0001256
18 ptosis 31 HP:0000508
19 short neck 31 HP:0000470
20 micrognathia 31 HP:0000347
21 epicanthus 31 HP:0000286
22 congenital hip dislocation 31 HP:0001374
23 talipes equinovarus 31 HP:0001762
24 kyphoscoliosis 31 HP:0002751
25 down-sloping shoulders 31 HP:0200021
26 arthrogryposis multiplex congenita 31 HP:0002804
27 cutaneous finger syndactyly 31 HP:0010554
28 bifid uvula 31 HP:0000193
29 single transverse palmar crease 31 HP:0000954
30 submucous cleft hard palate 31 HP:0000176
31 knee flexion contracture 31 HP:0006380
32 short phalanx of finger 31 HP:0009803
33 camptodactyly of toe 31 HP:0001836
34 decreased hip abduction 31 HP:0003184
35 lumbar hyperlordosis 31 HP:0002938
36 overlapping toe 31 HP:0001845
37 thoracolumbar scoliosis 31 HP:0002944
38 distal arthrogryposis 31 HP:0005684
39 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193
40 abnormal rib cage morphology 31 HP:0001547

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
epicanthal folds
ophthalmoplegia (in some patients)

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Chest External Features:
pectus excavatum
sloping shoulders

Skeletal Feet:
talipes equinovarus
camptodactyly
overlapping toes

Skeletal Hands:
cutaneous syndactyly
ulnar deviation
single transverse palmar creases
short fingers
camptodactyly of proximal interphalangeal joint
more
Skeletal Limbs:
knee flexion contractures

Neurologic Central Nervous System:
chiari i malformation of the cerebellum (in some patients)
intellectual disability, mild (in some patients)
psychomotor delay, mild (in some patients)

Head And Neck Neck:
short neck
mild neck webbing

Head And Neck Mouth:
cleft palate
bifid uvula
high-arched palate
submucous cleft

Head And Neck Face:
micrognathia
facial asymmetry (mild)

Skeletal Pelvis:
congenital hip dislocation
limited hip abduction

Skeletal Spine:
kyphoscoliosis
thoracolumbar scoliosis
lumbar lordosis

Skin Nails Hair Skin:
single transverse palmar creases
absence of interphalangeal creases

Muscle Soft Tissue:
decreased muscle mass (especially of limbs)

Clinical features from OMIM®:

114300 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Arthrogryposis, Distal, Type 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.46 CUL3 EPOR NR3C2 STK39
2 Decreased cell viability after pRB stimulation GR00230-A-1 9.26 STK39 WNK4
3 Increased colony dispersion (increased number of colonies and decreased number of cells per colony) GR00212-A 9.13 OXSR1 STK39 WNK4
4 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.32 WNK4

MGI Mouse Phenotypes related to Arthrogryposis, Distal, Type 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 AWAT2 CUL3 EPOR KCNJ1 KLHL3 NR3C2
2 homeostasis/metabolism MP:0005376 10.06 CUL3 EPOR KCNJ1 KLHL3 NR3C2 OXSR1
3 hematopoietic system MP:0005397 10.03 EPOR KCNJ1 KLHL3 NR3C2 OXSR1 PIEZO1
4 mortality/aging MP:0010768 9.8 CUL3 EPOR KCNJ1 NR3C2 OXSR1 PIEZO1
5 renal/urinary system MP:0005367 9.44 KCNJ1 KLHL3 NR3C2 OXSR1 PIEZO1 REN

Drugs & Therapeutics for Arthrogryposis, Distal, Type 3

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 3

Cochrane evidence based reviews: gordon syndrome

Genetic Tests for Arthrogryposis, Distal, Type 3

Anatomical Context for Arthrogryposis, Distal, Type 3

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 3:

40
Cerebellum, Brain, Kidney

Publications for Arthrogryposis, Distal, Type 3

Articles related to Arthrogryposis, Distal, Type 3:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Familial Gordon syndrome associated with a PIEZO2 mutation. 61 20 57 6
27714920 2017
2
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 6 57 61
24726473 2014
3
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. 57 6 61
11152147 2001
4
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 57 6
30285720 2018
5
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. 57 6
8423615 1993
6
Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome. 57 61
8370149 1993
7
The Gordon syndrome: autosomal dominant cleft palate, camptodactyly, and club feet. 57 61
7258227 1981
8
The Gordon syndrome. 61 57
7218283 1980
9
Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree. 57 61
458832 1979
10
Arthrogryposis: a review and update. 57
19571066 2009
11
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996
12
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 57
7039311 1982
13
Arthrogryposis multiplex congenita and the Turner phenotype. 57
5025860 1972
14
Camptodactyly, cleft palate, and club foot. A syndrome showing the autosomal-dominant pattern of inheritance. 57
5345097 1969
15
[ON THE CLINICAL ASPECTS OF THE NIELSON SYNDROME]. 57
14335841 1964
16
Renal and brain isoforms of WNK3 have opposite effects on NCCT expression. 54 61
19470686 2009
17
WNK1 affects surface expression of the ROMK potassium channel independent of WNK4. 54 61
16775035 2006
18
Renal tubular transport and the genetic basis of hypertensive disease. 54 61
15980941 2005
19
Hyperkalemia and Hypertension Post Organ Transplantation - A Management Challenge. 61
32709394 2021
20
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome. 61
33369052 2020
21
Novel KLHL3 Variant in an Infant With Gordon Syndrome. 61
32462939 2020
22
Metabolic Acidosis, Hyperkalemia, and Renal Unresponsiveness to Aldosterone Syndrome: Response to Treatment with Low-Potassium Diet. 61
33229781 2020
23
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2020
24
Hypertension Accompanied by Hyperaldosteronism, Hyperkalemia, and Hyperchloremic Acidosis: A Case Report and Literature Review. 61
32774943 2020
25
[Does Gordon's syndrome always manifest as hypertension? - a case report of one family]. 61
31812975 2019
26
The Molecular Genetics of Gordon Syndrome. 61
31795491 2019
27
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. 61
30938034 2019
28
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. 61
30988732 2019
29
Instrumented arthrodesis for non-traumatic craniocervical instability in very young children. 61
29959504 2019
30
Spectrum of renin angiotensin aldosterone system disorders in young hypertensives. 61
30108382 2018
31
Renal sodium and magnesium reabsorption are not coupled in a mouse model of Gordon syndrome. 61
30030908 2018
32
Pseudohypoaldosteronism Type II: A Young Girl Presented with Hypertension, Hyperkalemia and Metabolic Acidosis. 61
29482694 2018
33
Three cases of Gordon syndrome with dominant KLHL3 mutations. 61
28222034 2017
34
[Gordon syndrome: The importance of measuring blood pressure in children]. 61
27369102 2016
35
Gordon Syndrome: a continuing story. 61
25503323 2015
36
Gordon syndrome: literature review and a report of two cases. 61
24878349 2015
37
Extrarenal roles of the with-no-lysine[K] kinases (WNKs). 61
23662678 2013
38
Molecular insights from dysregulation of the thiazide-sensitive WNK/SPAK/NCC pathway in the kidney: Gordon syndrome and thiazide-induced hyponatraemia. 61
23683032 2013
39
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. 61
23902721 2013
40
11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension. 61
22932914 2012
41
Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans. 61
21520334 2011
42
Familial or genetic primary aldosteronism and Gordon syndrome. 61
21565671 2011
43
A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population. 61
21236712 2011
44
Hypertension, dietary salt intake, and the role of the thiazide-sensitive sodium chloride transporter NCCT. 61
21167012 2011
45
SPAK and WNK kinases: a new target for blood pressure treatment? 61
21088576 2011
46
Heritable forms of hypertension. 54
17647025 2009
47
Dissecting complex traits: recent advances in hypertension genomics. 54
19439027 2009
48
Crystal structure of domain-swapped STE20 OSR1 kinase domain. 61
19177573 2009
49
[Contribution of monogenic hypertension models to understanding of other hypertensions]. 61
18448411 2008
50
WNK kinases and essential hypertension. 54
18277144 2008

Variations for Arthrogryposis, Distal, Type 3

ClinVar genetic disease variations for Arthrogryposis, Distal, Type 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIEZO2 NM_022068.3(PIEZO2):c.8238_8245del (p.Trp2746_Glu2749delinsTer) Deletion Pathogenic 137628 rs724159993 18:10671538-10671545 18:10671541-10671548
2 PIEZO2 NM_022068.3(PIEZO2):c.8057G>A (p.Arg2686His) SNV Pathogenic 137629 rs587777450 18:10671726-10671726 18:10671729-10671729
3 PIEZO2 NM_022068.3(PIEZO2):c.8153G>A (p.Arg2718Gln) SNV Pathogenic 631524 rs587777452 18:10671630-10671630 18:10671633-10671633
4 PIEZO2 NM_022068.3(PIEZO2):c.8175_8177AGA[2] (p.Glu2727del) Microsatellite Pathogenic 235839 rs1555621138 18:10671600-10671602 18:10671603-10671605
5 PIEZO2 NM_001378183.1(PIEZO2):c.1741G>T (p.Gly581Ter) SNV Likely pathogenic 976307 18:10794787-10794787 18:10794789-10794789
6 PIEZO2 NM_022068.3(PIEZO2):c.4073C>T (p.Thr1358Met) SNV Uncertain significance 548506 rs777349822 18:10752653-10752653 18:10752655-10752655
7 PIEZO2 NM_022068.3(PIEZO2):c.6136G>C (p.Glu2046Gln) SNV Uncertain significance 436313 rs200276831 18:10699142-10699142 18:10699144-10699144

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Distal, Type 3:

73
# Symbol AA change Variation ID SNP ID
1 PIEZO2 p.Arg2686His VAR_071303 rs587777450

Expression for Arthrogryposis, Distal, Type 3

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 3.

Pathways for Arthrogryposis, Distal, Type 3

Pathways related to Arthrogryposis, Distal, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.69 WNK4 WNK3 WNK1 STK39 SLC12A3 SLC12A1

GO Terms for Arthrogryposis, Distal, Type 3

Cellular components related to Arthrogryposis, Distal, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.5 WNK4 WNK1 SVEP1 STK39 STK24 SLC12A3

Biological processes related to Arthrogryposis, Distal, Type 3 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.08 WNK4 WNK3 WNK1 STK39 STK24 OXSR1
2 protein phosphorylation GO:0006468 10.06 WNK4 WNK3 WNK1 STK39 STK24 OXSR1
3 ion transport GO:0006811 10.04 WNK4 WNK1 SLC12A3 SLC12A1 PIEZO2 PIEZO1
4 intracellular signal transduction GO:0035556 10.02 WNK4 WNK3 WNK1 STK39 OXSR1
5 ion transmembrane transport GO:0034220 9.94 SLC12A1 PIEZO2 PIEZO1 KCNJ1
6 protein autophosphorylation GO:0046777 9.77 WNK3 WNK1 STK39 STK24 OXSR1
7 potassium ion import across plasma membrane GO:1990573 9.75 SLC12A3 SLC12A1 KCNJ1
8 peptidyl-threonine phosphorylation GO:0018107 9.71 WNK3 WNK1 STK39 OXSR1
9 sodium ion homeostasis GO:0055078 9.65 SLC12A3 SLC12A1
10 potassium ion homeostasis GO:0055075 9.65 SLC12A3 SLC12A1
11 cell volume homeostasis GO:0006884 9.65 WNK3 SLC12A3 SLC12A1
12 detection of mechanical stimulus GO:0050982 9.64 PIEZO2 PIEZO1
13 negative regulation of potassium ion transmembrane transport GO:1901380 9.63 STK39 OXSR1
14 chloride ion homeostasis GO:0055064 9.63 SLC12A3 SLC12A1
15 cellular response to chemokine GO:1990869 9.63 WNK1 STK39 OXSR1
16 negative regulation of potassium ion transmembrane transporter activity GO:1901017 9.62 STK39 OXSR1
17 cellular hypotonic response GO:0071476 9.61 STK39 OXSR1
18 positive regulation of T cell chemotaxis GO:0010820 9.61 WNK1 STK39 OXSR1
19 renal sodium ion absorption GO:0070294 9.6 WNK4 KLHL3
20 positive regulation of ion transmembrane transporter activity GO:0032414 9.59 WNK3 STK39
21 chemokine (C-C motif) ligand 21 signaling pathway GO:0038116 9.57 WNK1 OXSR1
22 chemokine (C-X-C motif) ligand 12 signaling pathway GO:0038146 9.56 STK39 OXSR1
23 osmosensory signaling pathway GO:0007231 9.55 WNK3 OXSR1
24 regulation of cation transmembrane transport GO:1904062 9.54 WNK3 WNK1
25 distal tubule morphogenesis GO:0072156 9.52 WNK4 KLHL3
26 regulation of cellular process GO:0050794 9.51 WNK4 WNK1
27 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.5 WNK4 WNK3 WNK1
28 positive regulation of potassium ion import GO:1903288 9.43 WNK4 WNK3 WNK1
29 negative regulation of sodium ion transport GO:0010766 9.33 WNK4 WNK3 WNK1
30 negative regulation of pancreatic juice secretion GO:0090188 9.13 WNK4 WNK1 STK39
31 ion homeostasis GO:0050801 9.02 WNK4 WNK3 WNK1 STK39 KLHL3

Molecular functions related to Arthrogryposis, Distal, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.02 WNK4 WNK3 WNK1 STK39 STK24 OXSR1
2 kinase activity GO:0016301 9.85 WNK4 WNK3 WNK1 STK39 STK24 OXSR1
3 protein kinase activity GO:0004672 9.73 WNK4 WNK3 WNK1 STK39 STK24 OXSR1
4 protein serine/threonine kinase activity GO:0004674 9.63 WNK4 WNK3 WNK1 STK39 STK24 OXSR1
5 mechanosensitive ion channel activity GO:0008381 9.46 PIEZO2 PIEZO1
6 potassium:chloride symporter activity GO:0015379 9.43 SLC12A3 SLC12A1
7 cation:chloride symporter activity GO:0015377 9.4 SLC12A3 SLC12A1
8 sodium:potassium:chloride symporter activity GO:0008511 9.32 SLC12A3 SLC12A1
9 chloride channel inhibitor activity GO:0019869 9.13 WNK4 WNK3 WNK1
10 potassium channel inhibitor activity GO:0019870 8.8 WNK4 WNK3 WNK1

Sources for Arthrogryposis, Distal, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....