MCID: PSD102
MIFTS: 15

Pseudohermaphroditism, Female, with Skeletal Anomalies

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Pseudohermaphroditism, Female, with Skeletal Anomalies

MalaCards integrated aliases for Pseudohermaphroditism, Female, with Skeletal Anomalies:

Name: Pseudohermaphroditism, Female, with Skeletal Anomalies 56
46,xx Disorder of Sex Development-Skeletal Anomalies Syndrome 58

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
pseudohermaphroditism, female, with skeletal anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 264270
ICD10 via Orphanet 33 Q56.2
UMLS via Orphanet 72 C1849696
Orphanet 58 ORPHA2975
MedGen 41 C1849696

Summaries for Pseudohermaphroditism, Female, with Skeletal Anomalies

MalaCards based summary : Pseudohermaphroditism, Female, with Skeletal Anomalies, is also known as 46,xx disorder of sex development-skeletal anomalies syndrome. Affiliated tissues include ovary, uterus and bone, and related phenotypes are primary amenorrhea and dislocated radial head

More information from OMIM: 264270

Related Diseases for Pseudohermaphroditism, Female, with Skeletal Anomalies

Symptoms & Phenotypes for Pseudohermaphroditism, Female, with Skeletal Anomalies

Human phenotypes related to Pseudohermaphroditism, Female, with Skeletal Anomalies:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 primary amenorrhea 58 31 obligate (100%) Obligate (100%) HP:0000786
2 dislocated radial head 58 31 obligate (100%) Obligate (100%) HP:0003083
3 hypoplasia of the premaxilla 58 31 obligate (100%) Obligate (100%) HP:0010650
4 mandibular condyle hypoplasia 58 31 obligate (100%) Obligate (100%) HP:0007628
5 ambiguous genitalia, female 58 31 obligate (100%) Obligate (100%) HP:0000061
6 fused labia minora 58 31 obligate (100%) Obligate (100%) HP:0000063
7 deformed humerus 58 31 obligate (100%) Obligate (100%) HP:0003871
8 increased size of the clitoris 58 31 obligate (100%) Obligate (100%) HP:0040253
9 micrognathia 58 Obligate (100%)
10 abnormality of the ovary 58 Excluded (0%)
11 hypoplasia of the maxilla 31 HP:0000327
12 abnormality of the uterus 58 Excluded (0%)
13 ambiguous genitalia 31 HP:0000062
14 abnormality of the vagina 58 Excluded (0%)
15 clitoral hypertrophy 31 HP:0008665
16 ulnar radial head dislocation 31 HP:0005856
17 short mandibular condyles 31 HP:0005790

Symptoms via clinical synopsis from OMIM:

56
G U:
primary amenorrhea
enlarged clitoris
ambiguous external genitalia
marked fusion of labioscrotal folds
normal vagina, ovaries, tubes and uterus

Lab:
normal female karyotype

Skel:
short mandibular condyles
hypoplastic maxilla
hypoplastic mandible
fusion of humerus
ulnar dislocation of radial heads

Clinical features from OMIM:

264270

Drugs & Therapeutics for Pseudohermaphroditism, Female, with Skeletal Anomalies

Search Clinical Trials , NIH Clinical Center for Pseudohermaphroditism, Female, with Skeletal Anomalies

Genetic Tests for Pseudohermaphroditism, Female, with Skeletal Anomalies

Anatomical Context for Pseudohermaphroditism, Female, with Skeletal Anomalies

MalaCards organs/tissues related to Pseudohermaphroditism, Female, with Skeletal Anomalies:

40
Ovary, Uterus, Bone

Publications for Pseudohermaphroditism, Female, with Skeletal Anomalies

Articles related to Pseudohermaphroditism, Female, with Skeletal Anomalies:

# Title Authors PMID Year
1
Nonadrenal familial female hermaphroditism. 56
5042791 1972

Variations for Pseudohermaphroditism, Female, with Skeletal Anomalies

Expression for Pseudohermaphroditism, Female, with Skeletal Anomalies

Search GEO for disease gene expression data for Pseudohermaphroditism, Female, with Skeletal Anomalies.

Pathways for Pseudohermaphroditism, Female, with Skeletal Anomalies

GO Terms for Pseudohermaphroditism, Female, with Skeletal Anomalies

Sources for Pseudohermaphroditism, Female, with Skeletal Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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