MCID: SRK001
MIFTS: 25

Serkal Syndrome

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

Aliases & Classifications for Serkal Syndrome

MalaCards integrated aliases for Serkal Syndrome:

Name: Serkal Syndrome 54 50 24 56 71 29 13
Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs 69
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 71
46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals and Lungs 24
Sex Reversion-Kidneys, Adrenal and Lung Dysgenesis Syndrome 56
Serkal 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
based on 3 fetuses in 1 consanguineous family (last curated november 2016)
all 3 pregnancies terminated


HPO:

32
serkal syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Serkal Syndrome

UniProtKB/Swiss-Prot : 71 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, is also known as sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs, and has symptoms including pulmonary hypoplasia, 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 : 72 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

Symptoms & Phenotypes for Serkal Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
low-set ears

Head And Neck- Mouth:
cleft palate
cleft lip

Cardiovascular- Heart:
ventricular septal defect

Respiratory- Lung:
hypoplastic lungs
small lungs

Genitourinary- Bladder:
hypoplastic bladder

Genitourinary- Kidneys:
kidney agenesis/dysgenesis

Endocrine Features:
adrenal agenesis/dysgenesis

Growth- Other:
intrauterine growth retardation

Genitourinary- External Genitalia Male:
hypospadias
curved penis

Chest- Diaphragm:
diaphragmatic hernia

Cardiovascular- Vascular:
pulmonary artery stenosis

Genitourinary- Internal Genitalia Male:
ovotestis (in 1 fetus)

Genitourinary- Ureters:
thin ureters

Prenatal Manifestations- Amniotic Fluid:
oligohydramnios laboratory abnormalities 46,xx male (in 1 fetus)


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 pulmonary hypoplasia 56 32 obligate (100%) Obligate (100%) HP:0002089
2 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
3 ventricular septal defect 56 32 frequent (33%) Frequent (79-30%) HP:0001629
4 pulmonic stenosis 56 32 frequent (33%) Frequent (79-30%) HP:0001642
5 renal agenesis 56 32 hallmark (90%) Obligate (100%) HP:0000104
6 oligohydramnios 56 32 obligate (100%) Obligate (100%) HP:0001562
7 malrotation of small bowel 56 32 frequent (33%) Frequent (79-30%) HP:0004794
8 congenital diaphragmatic hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000776
9 growth delay 56 32 obligate (100%) Obligate (100%) HP:0001510
10 oral cleft 56 32 frequent (33%) Frequent (79-30%) HP:0000202
11 abnormality of the adrenal glands 56 32 frequent (33%) Frequent (79-30%) HP:0000834
12 sex reversal 56 32 obligate (100%) Obligate (100%) HP:0012245
13 hypoplasia of the bladder 56 32 frequent (33%) Frequent (79-30%) HP:0005343
14 adrenal gland agenesis 32 hallmark (90%) HP:0011743
15 abnormality of the penis 56 Frequent (79-30%)
16 abnormality of cardiovascular system morphology 56 Frequent (79-30%)
17 bilateral lung agenesis 32 hallmark (90%) HP:0005944

Drugs & Therapeutics for Serkal Syndrome

Search Clinical Trials , NIH Clinical Center for Serkal Syndrome

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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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