ORPHA:139466

SERKAL syndrome

Synonyms: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Antenatal
Status: active

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	SERKAL syndrome	Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
fr	Syndrome SERKAL	Syndrome de réversion sexuelle-dysgénesies rénale, surrénalienne et pulmonaire
de	SERKAL-Syndrom	Geschlechtsumkehr - Nieren-, Nebennieren- und Lungendysgenesie
es	Síndrome SERKAL	Reversión sexual-disgenesia adrenal, renal y pulmonar · Reversión sexual-disgenesia suprarrenal, renal y pulmonar
it	Sindrome SERKAL	Reversione sessuale - disgenesia surrenale, renale e polmonare · Reversione sessuale - disgenesia surrenalica, renale e polmonare
nl	SERKAL-syndroom	Geslachtsomkering - dysgenesie van nier, bijnier en long-syndroom
pt	Síndrome SERKAL
pl	Zespół SERKAL	Odwrócenie płci - nerki, dysgeneza nadnerczy i płuc
cs	SERKAL syndrom	Syndrom zahrnující sex-reversion a dysgenezi ledvin, nadledvin a plic
uk	Синдром SERKAL	Реверсія статі - синдром дисгенезії нирок, надниркових залоз та легень
zh	SERKAL综合征	性别逆转-肾脏、肾上腺和肺发育不全综合征
tr	SERKAL sendromu	Cinsiyet reversiyonu-böbrekler, adrenal ve akciğer disgenezi sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	611812	E		validated
ICD-10	Q87.8	NTBT	attributed	validated
MONDO	0012734	E		validated
MeSH	C567517	E		validated
UMLS	C2678492	E		validated
GARD	10302	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:325109Syndrome with 46,XX difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
WNT4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12783	ENSG00000162552	603490	1p36.12	Wnt family member 4	18179883[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		3 cases	Worldwide	Case(s)	Validated	18179883[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_18179883[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

15 annotations · validated 2017-01-18

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0001510	Growth delay
HP:0001562	Oligohydramnios
HP:0002089	Pulmonary hypoplasia
HP:0000104	Renal agenesis
HP:0012245	Sex reversal
Frequent (79-30%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0000834	Abnormality of the adrenal glands
HP:0000036	Abnormality of the penis
HP:0000776	Congenital diaphragmatic hernia
HP:0005343	Hypoplasia of the bladder
HP:0000047	Hypospadias
HP:0004794	Malrotation of small bowel
HP:0000202	Orofacial cleft
HP:0001642	Pulmonic stenosis
HP:0001629	Ventricular septal defect

Run the differential on the 5 obligate / very frequent terms

Annotation source: 18179883[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/139466
This record as JSON: /data/d/139466.json