SERKAL
MCID: 46X054
MIFTS: 26

46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs (SERKAL)

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

Aliases & Classifications for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

MalaCards integrated aliases for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs:

Name: 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs 57 72
Serkal Syndrome 57 20 58 72 36 29 13 6 39
Sex Reversion-Kidneys, Adrenal and Lung Dysgenesis Syndrome 20 58
Serkal 57 72
Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs 70

Characteristics:

Orphanet epidemiological data:

58
serkal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139466 Definition SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Epidemiology The syndrome is lethal and has been described in three foetuses. Etiology It is caused by homozygous missense mutations in the WNT4 gene. Genetic counseling It is transmitted as an autosomal recessive trait.

MalaCards based summary : 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs, also known as serkal syndrome, is related to autosomal recessive disease. An important gene associated with 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs is WNT4 (Wnt Family Member 4), and among its related pathways/superpathways is Wnt signaling pathway. Affiliated tissues include lung, kidney and adrenal gland, and related phenotypes are growth delay and oligohydramnios

KEGG : 36 SERKAL syndrome is an autosomal recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. It is caused by loss-of-function mutations in WNT4.

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 611812

Related Diseases for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Diseases related to 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive disease 10.0

Symptoms & Phenotypes for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Human phenotypes related to 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 growth delay 58 31 obligate (100%) Obligate (100%) HP:0001510
2 oligohydramnios 58 31 obligate (100%) Obligate (100%) HP:0001562
3 pulmonary hypoplasia 58 31 obligate (100%) Obligate (100%) HP:0002089
4 renal agenesis 58 31 hallmark (90%) Obligate (100%) HP:0000104
5 sex reversal 58 31 obligate (100%) Obligate (100%) HP:0012245
6 bilateral lung agenesis 31 hallmark (90%) HP:0005944
7 adrenal gland agenesis 31 hallmark (90%) HP:0011743
8 abnormality of the adrenal glands 58 31 frequent (33%) Frequent (79-30%) HP:0000834
9 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
10 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
11 pulmonic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001642
12 congenital diaphragmatic hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000776
13 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
14 hypoplasia of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0005343
15 malrotation of small bowel 58 31 frequent (33%) Frequent (79-30%) HP:0004794
16 cleft palate 31 HP:0000175
17 intrauterine growth retardation 31 HP:0001511
18 low-set ears 31 HP:0000369
19 pulmonary artery stenosis 31 HP:0004415
20 abnormality of the penis 58 Frequent (79-30%)
21 abnormality of cardiovascular system morphology 58 Frequent (79-30%)
22 ovotestis 31 HP:0012861
23 cleft lip 31 HP:0410030

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Ears:
low-set ears

Cardiovascular Heart:
ventricular septal defect

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Respiratory Lung:
hypoplastic lungs
small lungs

Genitourinary Internal Genitalia Male:
ovotestis (in 1 fetus)

Genitourinary Ureters:
thin ureters

Laboratory Abnormalities:
46,xx male (in 1 fetus)

Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Male:
hypospadias
curved penis

Cardiovascular Vascular:
pulmonary artery stenosis

Chest Diaphragm:
diaphragmatic hernia

Genitourinary Bladder:
hypoplastic bladder

Genitourinary Kidneys:
kidney agenesis/dysgenesis

Endocrine Features:
adrenal agenesis/dysgenesis

Clinical features from OMIM®:

611812 (Updated 05-Apr-2021)

Drugs & Therapeutics for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs

Genetic Tests for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Genetic tests related to 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs:

# Genetic test Affiliating Genes
1 Serkal Syndrome 29 WNT4

Anatomical Context for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

MalaCards organs/tissues related to 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs:

40
Lung, Kidney, Adrenal Gland

Publications for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Articles related to 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs:

# Title Authors PMID Year
1
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. 6 57 61
18179883 2008
2
The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action. 57
15932923 2005
3
Female development in mammals is regulated by Wnt-4 signalling. 57
9989404 1999

Variations for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

ClinVar genetic disease variations for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT4 NM_030761.5(WNT4):c.341C>T (p.Ala114Val) SNV Pathogenic 6309 rs121908651 GRCh37: 1:22448042-22448042
GRCh38: 1:22121549-22121549
2 WNT4 NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) SNV Uncertain significance 587509 rs1334778982 GRCh37: 1:22446655-22446655
GRCh38: 1:22120162-22120162

UniProtKB/Swiss-Prot genetic disease variations for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs:

72
# Symbol AA change Variation ID SNP ID
1 WNT4 p.Ala114Val VAR_043499 rs121908651

Expression for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Search GEO for disease gene expression data for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs.

Pathways for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Pathways related to 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

Sources for 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and...

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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