Serkal Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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.

Genes related to Serkal Syndrome

WNT4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Serkal Syndrome

Growth delay
Cleft palate
Low-set ears
Intrauterine growth retardation
Ventricular septal defect
Abnormality of cardiovascular system morphology
Hypospadias
Cleft lip
Pulmonic stenosis
Oral cleft

And another 13 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Serkal Syndrome Is also known as serkal syndrome, sex reversion-kidneys, adrenal and lung dysgenesis syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Serkal Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS Specificity 13 % Genes 100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS, NR5A1 Specificity 12 % Genes 100 %
WNT4. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). WNT4 Specificity 100 % Genes 100 %
SERKAL syndrome (deletions/duplication analysis on WNT4 gene). By CGC Genetics (Portugal). WNT4 Specificity 100 % Genes 100 %
Mullerian aplasia and hyperandrogenism (sequence analysis of WNT4 gene). By CGC Genetics (Portugal). WNT4 Specificity 100 % Genes 100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...) View the complete list with 27 more genes Panel complete gene list ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L, FRAS1, FAT4, FREM1, FREM2, NIPBL, DSTYK, GREB1L, AGTR1, EYA1, FGF20, FGFR2, FOXP1, GATA3, GLI2, GLI3, HOXA13, HOXA4, HOXB6, ITGA8, LIFR, LRP4, MUC1, MYH9, PAX2, PBX1, REN, RET Specificity 3 % Genes 100 %
46,XX Disorder of Sex Development (DSD) via WNT4 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). WNT4 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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