ALPC
MCID: ALP099
MIFTS: 20

Alopecia, Congenital (ALPC)

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 palmoplantar keratoderma and congenital alopecia 1. An important gene associated with Alopecia, Congenital is HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor). Affiliated tissues include t cells, and related phenotypes are alopecia and hypotrichosis

Description from OMIM: 300042

Related Diseases for Alopecia, Congenital

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 alopecia 32 HP:0001596
2 hypotrichosis 32 HP:0001006

Drugs & Therapeutics for Alopecia, Congenital

Search Clinical Trials , NIH Clinical Center for Alopecia, Congenital

Genetic Tests for Alopecia, Congenital

Anatomical Context for Alopecia, Congenital

MalaCards organs/tissues related to Alopecia, Congenital:

41
T Cells

Publications for Alopecia, Congenital

Articles related to Alopecia, Congenital:

(show all 17)
# Title Authors Year
1
Congenital alopecia of eyebrow. ( 30289112 )
2018
2
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. ( 27339777 )
2016
3
Concomitance of Goldenhar Syndrome with Congenital Alopecia Areata. ( 29485831 )
2016
4
Congenital lipedematous alopecia: adding to the differential diagnosis of congenital alopecia. ( 25673939 )
2015
5
Congenital alopecia areata. ( 15692503 )
2005
6
Congenital alopecia areata: another case. ( 10640853 )
1999
7
Congenital alopecia areata. ( 9267757 )
1997
8
X-linked recessive inheritance in a family with isolated congenital alopecia. ( 8569404 )
1996
9
Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs. ( 8911612 )
1996
10
Congenital alopecia, seizures, and psychomotor retardation in three siblings. ( 3334010 )
1987
11
Congenital alopecia in a Bichon Frise. ( 3710892 )
1986
12
Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. ( 6777601 )
1980
13
Hair transplantation for congenital alopecia. ( 422406 )
1979
14
CONGENITAL ALOPECIA AREATA IN A FATHER INHERITED IN HIS SON. ( 14162111 )
1963
15
Familial congenital alopecia, epilepsy, mental retardation with unusual electroencephalograms. ( 14476762 )
1962
16
Progeria? with erythema of hands and feet, partial alopecia, congenital coloboma and osteoporosis. ( 18210563 )
1949
17
Congenital Alopecia. ( 19977719 )
1914

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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