46,XY SEX REVERSAL 6

General Information (adopted from Orphanet):

Synonyms, Signs: 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, MAP3K1-RELATED
46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED
SRXY6
Number of Symptoms 18
OrphanetNr:
OMIM Id: 613762
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012245) Sex reversal 13 / 7739
2
(HPO:0000057) Clitoromegaly rare [HPO:skoehler] 30 / 7739
3
(HPO:0100621) Dysgerminoma 3 / 7739
4
(HPO:0000150) Gonadoblastoma 8 / 7739
5
(HPO:0010464) Streak ovary 8 / 7739
6
(HPO:0000047) Hypospadias 250 / 7739
7
(HPO:0000051) Perineal hypospadias 6 / 7739
8
(HPO:0000041) Chordee 11 / 7739
9
(HPO:0003244) Penile hypospadias 4 / 7739
10
(HPO:0002215) Sparse axillary hair 21 / 7739
11
(HPO:0001007) Hirsutism rare [HPO:skoehler] 91 / 7739
12
(OMIM) Uterus hypoplastic to normal 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Fallopian tubes normal 1 / 7739
15
(OMIM) Increased height in females 1 / 7739
16
(OMIM) Normal-appearing female external genitalia 1 / 7739
17
(OMIM) Dysgenetic testes 1 / 7739
18
(OMIM) Ambiguous male external genitalia (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sternberg et al. (1968) reported 3 cases of 46,XY females, each in a different sibship of a family connected through normal females (proposita, maternal cousin, and maternal aunt).

Espiner et al. (1970) studied a New Zealand ...

Molecular genetics OMIM In the French family with 46,XY gonadal dysgenesis mapping to chromosome 5q, originally reported by Le Caignec et al. (2003), Pearlman et al. (2010) analyzed the MAP3K1 gene and identified a heterozygous splice site mutation that segregated with ...