MCID: ISL069
MIFTS: 13

Isolated Micropenis

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Micropenis

MalaCards integrated aliases for Isolated Micropenis:

Name: Isolated Micropenis 59

Classifications:



External Ids:

Orphanet 59 ORPHA95707
UMLS via Orphanet 74 C0266435 C1387005
ICD10 via Orphanet 34 Q55.6
SNOMED-CT via HPO 69 34911001

Summaries for Isolated Micropenis

MalaCards based summary : Isolated Micropenis is related to androgen insensitivity syndrome and androgen insensitivity, partial. An important gene associated with Isolated Micropenis is AR (Androgen Receptor). Related phenotypes are micropenis and hypospadias

Related Diseases for Isolated Micropenis

Diseases related to Isolated Micropenis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 androgen insensitivity syndrome 9.8
2 androgen insensitivity, partial 9.8
3 hypospadias 9.8

Symptoms & Phenotypes for Isolated Micropenis

Human phenotypes related to Isolated Micropenis:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micropenis 59 32 obligate (100%) Obligate (100%) HP:0000054
2 hypospadias 59 Excluded (0%)
3 ambiguous genitalia 59 Excluded (0%)

Drugs & Therapeutics for Isolated Micropenis

Search Clinical Trials , NIH Clinical Center for Isolated Micropenis

Genetic Tests for Isolated Micropenis

Anatomical Context for Isolated Micropenis

Publications for Isolated Micropenis

Articles related to Isolated Micropenis:

# Title Authors Year
1
The relation between isolated micropenis in childhood with CAG and GGN repeat polymorphisms in the androgen receptor gene ( 29714466 )
2018
2
Etiological Evaluation of Patients Presenting with Isolated Micropenis to an Academic Health Care Center. ( 24005879 )
2013
3
Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis. ( 20305676 )
2010
4
Normal postnatal androgen production and action in isolated micropenis and isolated hypospadias. ( 1929508 )
1991

Variations for Isolated Micropenis

Expression for Isolated Micropenis

Search GEO for disease gene expression data for Isolated Micropenis.

Pathways for Isolated Micropenis

GO Terms for Isolated Micropenis

Sources for Isolated Micropenis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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