MCID: 46X054
MIFTS: 24

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

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Fetal 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 75
Serkal Syndrome 57 53 59 75 29 13 6 40
Sex Reversion-Kidneys, Adrenal and Lung Dysgenesis Syndrome 53 59
Serkal 57 75
Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs 73

Characteristics:

Orphanet epidemiological data:

59
serkal syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs:
Inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139466Disease definitionSERKAL (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.EpidemiologyThe syndrome is lethal and has been described in three foetuses.EtiologyIt is caused by homozygousmissense mutations in the WNT4 gene.Genetic counselingIt is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs, is also known as serkal syndrome. An important gene associated with 46,xx Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs is WNT4 (Wnt Family Member 4). Affiliated tissues include lung, kidney and adrenal gland, and related phenotypes are growth delay and hypospadias

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 611812

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Growth Other:
intrauterine growth retardation

Cardiovascular Heart:
ventricular septal defect

Cardiovascular Vascular:
pulmonary artery stenosis

Respiratory Lung:
hypoplastic lungs
small lungs

GenitourinaryInternal GenitaliaMale:
ovotestis (in 1 fetus)

Genitourinary Ureters:
thin ureters

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

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary External Genitalia Male:
hypospadias
curved penis

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Chest Diaphragm:
diaphragmatic hernia

Genitourinary Bladder:
hypoplastic bladder

Genitourinary Kidneys:
kidney agenesis/dysgenesis

Endocrine Features:
adrenal agenesis/dysgenesis


Clinical features from OMIM:

611812

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

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 growth delay 59 32 obligate (100%) Obligate (100%) HP:0001510
2 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
3 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
4 pulmonic stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0001642
5 oligohydramnios 59 32 obligate (100%) Obligate (100%) HP:0001562
6 oral cleft 59 32 frequent (33%) Frequent (79-30%) HP:0000202
7 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
8 abnormality of the adrenal glands 59 32 frequent (33%) Frequent (79-30%) HP:0000834
9 sex reversal 59 32 obligate (100%) Obligate (100%) HP:0012245
10 renal agenesis 59 32 hallmark (90%) Obligate (100%) HP:0000104
11 pulmonary hypoplasia 59 32 obligate (100%) Obligate (100%) HP:0002089
12 malrotation of small bowel 59 32 frequent (33%) Frequent (79-30%) HP:0004794
13 hypoplasia of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0005343
14 low-set ears 32 HP:0000369
15 cleft palate 32 HP:0000175
16 intrauterine growth retardation 32 HP:0001511
17 pulmonary artery stenosis 32 HP:0004415
18 abnormality of the penis 59 Frequent (79-30%)
19 abnormality of cardiovascular system morphology 59 Frequent (79-30%)
20 ovotestis 32 HP:0012861
21 bilateral lung agenesis 32 hallmark (90%) HP:0005944
22 cleft lip 32 HP:0410030
23 adrenal gland agenesis 32 hallmark (90%) HP:0011743

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:

41
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 Year
1
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of- function mutation in WNT4. ( 18179883 )
2008

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

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

75
# Symbol AA change Variation ID SNP ID
1 WNT4 p.Ala114Val VAR_043499 rs121908651

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

6
# 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
2 WNT4 NM_030761.4(WNT4): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic rs121908651 GRCh38 Chromosome 1, 22121549: 22121549

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...

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...

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