Serkal Syndrome

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.

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

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.


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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
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
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 %

We have 18 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY 18; IMD18 GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY HYPOMAGNESEMIA 3, RENAL; HOMG3 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 RAINE SYNDROME; RNS ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS

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