MCID: XLN215
MIFTS: 13

X-Linked Congenital Generalized Hypertrichosis

Categories: Rare diseases

Aliases & Classifications for X-Linked Congenital Generalized Hypertrichosis

MalaCards integrated aliases for X-Linked Congenital Generalized Hypertrichosis:

Name: X-Linked Congenital Generalized Hypertrichosis 53
Congenital Generalized Hypertrichosis, Macias-Flores Type 53
Chromosome Xq27.1 Interchromosomal Insertion Syndrome 53
Hypertrichosis Congenital Generalized X-Linked 53
Macias Flores-Garcia Cruz-Rivera Syndrome 53
Macias-Flores Garcia-Cruz Rivera Syndrome 53
Hypertrichosis, Congenital Generalized 73
Htc2 53
Cgh 53
Hcg 53

Classifications:



External Ids:

UMLS 73 C1855900

Summaries for X-Linked Congenital Generalized Hypertrichosis

NIH Rare Diseases : 53 X-linkedcongenital generalized hypertrichosis is a rare congenital (present at birth) skin disease.  It is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with mild facial abnormalities (including nasal openings that are tipped upwards and moderate protrusion of the jaw) and occasional teeth anomalies and deafness. It is caused by a specific abnormality of the X chromosome. Inheritance is X-linked. It is important to know if the disease occurs alone (is an isolated form), or if it is part of a genetic syndrome.  Treatment includes standard methods for hair removal such as shaving, laser hair removal, electrolysis, chemical methods and others.

MalaCards based summary : X-Linked Congenital Generalized Hypertrichosis, also known as congenital generalized hypertrichosis, macias-flores type, is related to gestational trophoblastic tumor and peroxisome biogenesis disorder 11a. An important gene associated with X-Linked Congenital Generalized Hypertrichosis is FGF13 (Fibroblast Growth Factor 13). Affiliated tissues include skin.

Related Diseases for X-Linked Congenital Generalized Hypertrichosis

Diseases related to X-Linked Congenital Generalized Hypertrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gestational trophoblastic tumor 11.6
2 peroxisome biogenesis disorder 11a 11.5
3 hypertrichosis universalis congenita, ambras type 11.3
4 chromosome 15q24 deletion syndrome 11.1
5 hypertrichosis 10.0

Graphical network of the top 20 diseases related to X-Linked Congenital Generalized Hypertrichosis:



Diseases related to X-Linked Congenital Generalized Hypertrichosis

Symptoms & Phenotypes for X-Linked Congenital Generalized Hypertrichosis

Drugs & Therapeutics for X-Linked Congenital Generalized Hypertrichosis

Search Clinical Trials , NIH Clinical Center for X-Linked Congenital Generalized Hypertrichosis

Genetic Tests for X-Linked Congenital Generalized Hypertrichosis

Anatomical Context for X-Linked Congenital Generalized Hypertrichosis

MalaCards organs/tissues related to X-Linked Congenital Generalized Hypertrichosis:

41
Skin

Publications for X-Linked Congenital Generalized Hypertrichosis

Articles related to X-Linked Congenital Generalized Hypertrichosis:

# Title Authors Year
1
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. ( 23603273 )
2013

Variations for X-Linked Congenital Generalized Hypertrichosis

Expression for X-Linked Congenital Generalized Hypertrichosis

Search GEO for disease gene expression data for X-Linked Congenital Generalized Hypertrichosis.

Pathways for X-Linked Congenital Generalized Hypertrichosis

GO Terms for X-Linked Congenital Generalized Hypertrichosis

Sources for X-Linked Congenital Generalized Hypertrichosis

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
Content
Loading form....