WRS
MCID: WLC001
MIFTS: 40

Wolcott-Rallison Syndrome (WRS) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Wolcott-Rallison Syndrome

Aliases & Descriptions for Wolcott-Rallison Syndrome:

Name: Wolcott-Rallison Syndrome 54 24 56 66 13 52 69
Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus 24 66
Iddm-Med Syndrome 50 66
Med-Iddm Syndrome 50 66
Wrs 56 66
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 54
Epiphyseal Dysplasia Multiple with Early-Onset Diabetes Mellitus 50
Early-Onset Diabetes Mellitus with Multiple Epiphyseal Dysplasia 56
Wolcott Rallison Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
wolcott-rallison syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
wolcott-rallison syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 226980
Orphanet 56 ORPHA1667
MESH via Orphanet 43 C536739
UMLS via Orphanet 70 C0432217
ICD10 via Orphanet 34 E13
MedGen 40 C0432217
MeSH 42 D010009

Summaries for Wolcott-Rallison Syndrome

OMIM : 54 Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by permanent neonatal or early infancy... (226980) more...

MalaCards based summary : Wolcott-Rallison Syndrome, also known as multiple epiphyseal dysplasia with early-onset diabetes mellitus, is related to long qt syndrome 1 and hypothyroidism, and has symptoms including seizures, genu valgum and hypothyroidism. An important gene associated with Wolcott-Rallison Syndrome is EIF2AK3 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3), and among its related pathways/superpathways are Unfolded Protein Response (UPR) and Translational Control. Affiliated tissues include bone, pancreas and heart.

UniProtKB/Swiss-Prot : 66 Wolcott-Rallison syndrome: A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, mental retardation and cardiovascular abnormalities.

Related Diseases for Wolcott-Rallison Syndrome

Diseases related to Wolcott-Rallison Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
id Related Disease Score Top Affiliating Genes
1 long qt syndrome 1 10.8
2 hypothyroidism 10.3
3 neonatal diabetes mellitus 10.3
4 hypoaldosteronism 10.1
5 acute liver failure 10.1
6 hepatitis 10.1
7 liver disease 10.1
8 muscular atrophy 9.9
9 spinal muscular atrophy 9.9
10 distal muscular dystrophy 9.8 EIF2AK3 KCNJ5
11 prostatitis 9.7
12 leishmaniasis 9.7
13 malaria 9.7
14 prostate cancer 9.7
15 cutaneous leishmaniasis 9.7
16 plasmodium vivax malaria 9.7
17 interleukin 1 receptor antagonist deficiency 9.3 EIF2AK3 EIF2S1 KCNJ5 PAX4

Graphical network of the top 20 diseases related to Wolcott-Rallison Syndrome:



Diseases related to Wolcott-Rallison Syndrome

Symptoms & Phenotypes for Wolcott-Rallison Syndrome

Symptoms by clinical synopsis from OMIM:

226980

Clinical features from OMIM:

226980

Human phenotypes related to Wolcott-Rallison Syndrome:

56 32 (show top 50) (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 genu valgum 56 32 Frequent (79-30%) HP:0002857
3 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
4 osteopenia 56 32 Very frequent (99-80%) HP:0000938
5 intellectual disability 56 32 Frequent (79-30%) HP:0001249
6 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
7 gait disturbance 56 32 Frequent (79-30%) HP:0001288
8 kyphosis 56 32 Occasional (29-5%) HP:0002808
9 hyperlordosis 56 32 Occasional (29-5%) HP:0003307
10 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
11 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
12 microcephaly 56 32 Occasional (29-5%) HP:0000252
13 short stature 56 32 Very frequent (99-80%) HP:0004322
14 renal insufficiency 56 32 Occasional (29-5%) HP:0000083
15 nephropathy 56 32 Occasional (29-5%) HP:0000112
16 renal tubular dysfunction 56 32 Very frequent (99-80%) HP:0000124
17 dehydration 56 32 Very frequent (99-80%) HP:0001944
18 osteoporosis 56 32 Very frequent (99-80%) HP:0000939
19 hypoglycemia 56 32 Occasional (29-5%) HP:0001943
20 hyperuricemia 56 32 Very frequent (99-80%) HP:0002149
21 weight loss 56 32 Very frequent (99-80%) HP:0001824
22 abnormality of the metaphyses 56 32 Very frequent (99-80%) HP:0000944
23 epiphyseal dysplasia 56 32 Very frequent (99-80%) HP:0002656
24 platyspondyly 56 32 Frequent (79-30%) HP:0000926
25 coxa valga 56 32 Frequent (79-30%) HP:0002673
26 epicanthus 56 32 Very frequent (99-80%) HP:0000286
27 short thorax 56 32 Frequent (79-30%) HP:0010306
28 microdontia 56 32 Very frequent (99-80%) HP:0000691
29 enlarged thorax 56 32 Frequent (79-30%) HP:0100625
30 elevated hepatic transaminases 56 32 Frequent (79-30%) HP:0002910
31 jaundice 56 32 Occasional (29-5%) HP:0000952
32 exocrine pancreatic insufficiency 56 32 Occasional (29-5%) HP:0001738
33 abnormality of neuronal migration 56 32 Occasional (29-5%) HP:0002269
34 hip dislocation 56 32 Frequent (79-30%) HP:0002827
35 intrauterine growth retardation 56 32 Occasional (29-5%) HP:0001511
36 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
37 coma 56 32 Very rare (<4-1%) HP:0001259
38 recurrent fractures 56 32 Occasional (29-5%) HP:0002757
39 neutropenia 56 32 Frequent (79-30%) HP:0001875
40 acute hepatic failure 56 32 Frequent (79-30%) HP:0006554
41 high forehead 56 32 Very frequent (99-80%) HP:0000348
42 thin vermilion border 56 32 Very frequent (99-80%) HP:0000233
43 triangular face 56 32 Very frequent (99-80%) HP:0000325
44 narrow iliac wings 56 32 Frequent (79-30%) HP:0002868
45 motor delay 56 32 Frequent (79-30%) HP:0001270
46 cone-shaped epiphyses of the phalanges of the hand 56 32 Very frequent (99-80%) HP:0010230
47 glycosuria 56 32 Very frequent (99-80%) HP:0003076
48 chronic hepatic failure 56 32 Frequent (79-30%) HP:0100626
49 steatorrhea 56 32 Very frequent (99-80%) HP:0002570
50 abnormal heart morphology 56 32 Frequent (79-30%) HP:0001627

Drugs & Therapeutics for Wolcott-Rallison Syndrome

Search Clinical Trials , NIH Clinical Center for Wolcott-Rallison Syndrome

Genetic Tests for Wolcott-Rallison Syndrome

Genetic tests related to Wolcott-Rallison Syndrome:

id Genetic test Affiliating Genes
1 Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus 24 EIF2AK3

Anatomical Context for Wolcott-Rallison Syndrome

MalaCards organs/tissues related to Wolcott-Rallison Syndrome:

39
Bone, Pancreas, Heart, Liver, Kidney

Publications for Wolcott-Rallison Syndrome

Articles related to Wolcott-Rallison Syndrome:

(show all 33)
id Title Authors Year
1
Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia. ( 28220546 )
2017
2
En bloc multiorgan transplant (liver, pancreas, and kidney) for acute liver and renal failure in a patient with wolcott-rallison syndrome. ( 26784269 )
2016
3
Wolcott-Rallison syndrome with novel EIF2AK3 gene mutation. ( 27145240 )
2016
4
Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients. ( 26860746 )
2016
5
Anaesthesia and orphan disease: a child with Wolcott-Rallison syndrome. ( 25101713 )
2015
6
Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort. ( 25659842 )
2015
7
Novel mutation in wolcott-rallison syndrome with variable expression in two omani siblings. ( 25960841 )
2015
8
RelatA+ve hypoaldosteronism in a patient with Wolcott-Rallison syndrome. ( 26433138 )
2015
9
Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome. ( 25384546 )
2015
10
Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome. ( 24859506 )
2014
11
Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases. ( 25131821 )
2014
12
Wolcott Rallison syndrome: a rare inherited diabetes mellitus. ( 24710710 )
2014
13
Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review. ( 28156240 )
2013
14
Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome. ( 24194294 )
2013
15
Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome. ( 23933668 )
2013
16
Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review. ( 23759358 )
2013
17
EIF2AK3 mutations in South Indian children with permanent neonatal diabetes mellitus associated with Wolcott-Rallison syndrome. ( 24168455 )
2013
18
Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation. ( 23585173 )
2013
19
Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome. ( 24032041 )
2013
20
Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene. ( 22672868 )
2012
21
Wolcott-Rallison syndrome. ( 23263430 )
2012
22
A novel EIF2AK3 mutation leading to Wolcott-Rallison syndrome in a Chinese child. ( 21648287 )
2011
23
Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome. ( 21518408 )
2011
24
Wolcott-Rallison syndrome. ( 21050479 )
2010
25
Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. ( 20202148 )
2010
26
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. ( 19837917 )
2009
27
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. ( 18704764 )
2008
28
A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome. ( 16813601 )
2006
29
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. ( 15220213 )
2004
30
Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. ( 15384883 )
2004
31
Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene. ( 12086964 )
2002
32
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. ( 10932183 )
2000
33
Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. ( 9598721 )
1998

Variations for Wolcott-Rallison Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Wolcott-Rallison Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 EIF2AK3 p.Arg588Gln VAR_011408 rs121908569

ClinVar genetic disease variations for Wolcott-Rallison Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EIF2AK3 NM_004836.6(EIF2AK3): c.1035dupT (p.Lys346Terfs) duplication Pathogenic rs869025178 GRCh37 Chromosome 2, 88890091: 88890091
2 EIF2AK3 NM_004836.6(EIF2AK3): c.1763G> A (p.Arg588Gln) single nucleotide variant Pathogenic rs121908569 GRCh37 Chromosome 2, 88882948: 88882948
3 EIF2AK3 NM_004836.6(EIF2AK3): c.2985+1G> A single nucleotide variant Pathogenic rs869025179 GRCh37 Chromosome 2, 88870391: 88870391
4 EIF2AK3 EIF2AK3, 4-BP DEL, 1563GAAA deletion Pathogenic
5 EIF2AK3 NM_004836.6(EIF2AK3): c.994G> T (p.Glu332Ter) single nucleotide variant Pathogenic rs121908570 GRCh37 Chromosome 2, 88890344: 88890344
6 EIF2AK3 NM_004836.6(EIF2AK3): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs864621972 GRCh37 Chromosome 2, 88888393: 88888393
7 EIF2AK3 NM_004836.6(EIF2AK3): c.1564_1565delTG (p.Trp522Glufs) deletion Pathogenic rs797045558 GRCh38 Chromosome 2, 88585926: 88585927

Expression for Wolcott-Rallison Syndrome

Search GEO for disease gene expression data for Wolcott-Rallison Syndrome.

Pathways for Wolcott-Rallison Syndrome

GO Terms for Wolcott-Rallison Syndrome

Biological processes related to Wolcott-Rallison Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein autophosphorylation GO:0046777 9.43 EIF2AK3 EIF2S1
2 regulation of translation GO:0006417 9.4 EIF2AK3 EIF2S1
3 response to endoplasmic reticulum stress GO:0034976 9.37 EIF2AK3 EIF2S1
4 cellular response to amino acid starvation GO:0034198 9.32 EIF2AK3 EIF2S1
5 endocrine pancreas development GO:0031018 9.26 EIF2AK3 PAX4
6 PERK-mediated unfolded protein response GO:0036499 9.16 EIF2AK3 EIF2S1
7 negative regulation of translational initiation in response to stress GO:0032057 8.96 EIF2AK3 EIF2S1
8 response to manganese-induced endoplasmic reticulum stress GO:1990737 8.62 EIF2AK3 EIF2S1

Sources for Wolcott-Rallison Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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