Aliases & Classifications for Alopecia, Congenital

MalaCards integrated aliases for Alopecia, Congenital:

Name: Alopecia, Congenital 57
Congenital Alopecia 55
Alpc 57

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
alopecia, congenital:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300042
MedGen 42 C0265992
ICD10 33 Q84.0

Summaries for Alopecia, Congenital

MalaCards based summary : Alopecia, Congenital, also known as congenital alopecia, is related to t-cell immunodeficiency, congenital alopecia, and nail dystrophy and focal alopecia congenital megalencephaly. An important gene associated with Alopecia, Congenital is HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor). Related phenotypes are hypotrichosis and alopecia

Description from OMIM: 300042

Related Diseases for Alopecia, Congenital

Diseases in the Alopecia family:

Alopecia, Congenital

Diseases related to Alopecia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.3
2 focal alopecia congenital megalencephaly 11.8
3 palmoplantar keratoderma and congenital alopecia 2 9.9
4 alopecia 9.7
5 osteoporosis 9.6
6 rickets 9.6

Graphical network of the top 20 diseases related to Alopecia, Congenital:



Diseases related to Alopecia, Congenital

Symptoms & Phenotypes for Alopecia, Congenital

Symptoms via clinical synopsis from OMIM:

57
Hair:
congenital scalp alopecia
marked hypotrichosis
normal eyebrows and eyelashes


Clinical features from OMIM:

300042

Human phenotypes related to Alopecia, Congenital:

32
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 alopecia 32 HP:0001596

Drugs & Therapeutics for Alopecia, Congenital

Search Clinical Trials , NIH Clinical Center for Alopecia, Congenital

Genetic Tests for Alopecia, Congenital

Anatomical Context for Alopecia, Congenital

Publications for Alopecia, Congenital

Articles related to Alopecia, Congenital:

# Title Authors Year
1
Progeria? with erythema of hands and feet, partial alopecia, congenital coloboma and osteoporosis. ( 18210563 )
1949

Variations for Alopecia, Congenital

Expression for Alopecia, Congenital

Search GEO for disease gene expression data for Alopecia, Congenital.

Pathways for Alopecia, Congenital

GO Terms for Alopecia, Congenital

Sources for Alopecia, Congenital

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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