SERKAL
MCID: SRK001
MIFTS: 24

Serkal Syndrome (SERKAL) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Fetal diseases, Respiratory diseases, Reproductive diseases

Aliases & Classifications for Serkal Syndrome

Aliases & Descriptions for Serkal Syndrome:

Name: Serkal Syndrome 54 50 24 56 66 13
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 54 66
Serkal 66 29
Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs 69
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals and Lungs 24
Sex Reversion-Kidneys, Adrenal and Lung Dysgenesis Syndrome 56
46, Xx Testicular Disorders of Sex Development 42

Characteristics:

Orphanet epidemiological data:

56
serkal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: stillbirth;

HPO:

32
serkal syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611812
Orphanet 56 ORPHA139466
ICD10 via Orphanet 34 Q87.8
MedGen 40 C2678492
MeSH 42 D058531

Summaries for Serkal Syndrome

UniProtKB/Swiss-Prot : 66 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs: A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.

MalaCards based summary : Serkal Syndrome, also known as 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs, is related to 46,xx testicular disorder of sex development, and has symptoms including growth delay, hypospadias and ventricular septal defect. An important gene associated with Serkal Syndrome is WNT4 (Wnt Family Member 4). Affiliated tissues include lung, kidney and adrenal gland.

Wikipedia : 71 Serkal syndrome is an autosomal recessive disorder in XX humans. It is caused by loss of function in... more...

Description from OMIM: 611812

Related Diseases for Serkal Syndrome

Diseases related to Serkal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 46,xx testicular disorder of sex development 11.4

Symptoms & Phenotypes for Serkal Syndrome

Clinical features from OMIM:

611812

Human phenotypes related to Serkal Syndrome:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 growth delay 56 32 Obligate (100%) HP:0001510
2 hypospadias 56 32 Frequent (79-30%) HP:0000047
3 ventricular septal defect 56 32 Frequent (79-30%) HP:0001629
4 pulmonic stenosis 56 32 Frequent (79-30%) HP:0001642
5 oligohydramnios 56 32 Obligate (100%) HP:0001562
6 oral cleft 56 32 Frequent (79-30%) HP:0000202
7 congenital diaphragmatic hernia 56 32 Frequent (79-30%) HP:0000776
8 abnormality of the adrenal glands 56 32 Frequent (79-30%) HP:0000834
9 sex reversal 56 32 Obligate (100%) HP:0012245
10 renal agenesis 56 32 Obligate (100%) HP:0000104
11 pulmonary hypoplasia 56 32 Obligate (100%) HP:0002089
12 malrotation of small bowel 56 32 Frequent (79-30%) HP:0004794
13 hypoplasia of the bladder 56 32 Frequent (79-30%) HP:0005343
14 abnormality of the penis 56 Frequent (79-30%)
15 abnormality of cardiovascular system morphology 56 Frequent (79-30%)
16 bilateral lung agenesis 32 HP:0005944
17 adrenal gland agenesis 32 HP:0011743

Drugs & Therapeutics for Serkal Syndrome

Search Clinical Trials , NIH Clinical Center for Serkal Syndrome

Cochrane evidence based reviews: 46, xx testicular disorders of sex development

Genetic Tests for Serkal Syndrome

Genetic tests related to Serkal Syndrome:

id Genetic test Affiliating Genes
1 Serkal Syndrome 29
2 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals and Lungs 24 WNT4

Anatomical Context for Serkal Syndrome

MalaCards organs/tissues related to Serkal Syndrome:

39
Lung, Kidney, Adrenal Gland

Publications for Serkal Syndrome

Articles related to Serkal Syndrome:

id Title Authors Year
1
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of- function mutation in WNT4. ( 18179883 )
2008

Variations for Serkal Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Serkal Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 WNT4 p.Ala114Val VAR_043499 rs121908651

ClinVar genetic disease variations for Serkal Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNT4 NM_030761.4(WNT4): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic rs121908651 GRCh37 Chromosome 1, 22448042: 22448042

Expression for Serkal Syndrome

Search GEO for disease gene expression data for Serkal Syndrome.

Pathways for Serkal Syndrome

GO Terms for Serkal Syndrome

Sources for Serkal 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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