ALPF
MCID: ALP096
MIFTS: 9

Alopecia, Familial Focal (ALPF)

Categories: Genetic diseases

Aliases & Classifications for Alopecia, Familial Focal

MalaCards integrated aliases for Alopecia, Familial Focal:

Name: Alopecia, Familial Focal 57
Alopecia, Focal 57
Alpf 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
alopecia, familial focal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 104110
MedGen 42 C1863092
SNOMED-CT via HPO 69 263681008

Summaries for Alopecia, Familial Focal

MalaCards based summary : Alopecia, Familial Focal, also known as alopecia, focal, is related to encephalocraniocutaneous lipomatosis. Related phenotype is patchy alopecia.

Description from OMIM: 104110

Related Diseases for Alopecia, Familial Focal

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

# Related Disease Score Top Affiliating Genes
1 encephalocraniocutaneous lipomatosis 11.1

Symptoms & Phenotypes for Alopecia, Familial Focal

Symptoms via clinical synopsis from OMIM:

57
Hair:
patchy hair loss

Lab:
marked irreversible anagen-telogen transformation


Clinical features from OMIM:

104110

Human phenotypes related to Alopecia, Familial Focal:

32
# Description HPO Frequency HPO Source Accession
1 patchy alopecia 32 HP:0002232

Drugs & Therapeutics for Alopecia, Familial Focal

Search Clinical Trials , NIH Clinical Center for Alopecia, Familial Focal

Genetic Tests for Alopecia, Familial Focal

Anatomical Context for Alopecia, Familial Focal

Publications for Alopecia, Familial Focal

Variations for Alopecia, Familial Focal

Expression for Alopecia, Familial Focal

Search GEO for disease gene expression data for Alopecia, Familial Focal.

Pathways for Alopecia, Familial Focal

GO Terms for Alopecia, Familial Focal

Sources for Alopecia, Familial Focal

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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