CGH
MCID: XLN215
MIFTS: 16

X-Linked Congenital Generalized Hypertrichosis (CGH)

Categories: Oral diseases, 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 20
Congenital Generalized Hypertrichosis, Macias-Flores Type 20
Chromosome Xq27.1 Interchromosomal Insertion Syndrome 20
Hypertrichosis Congenital Generalized X-Linked 20
Macias Flores-Garcia Cruz-Rivera Syndrome 20
Macias-Flores Garcia-Cruz Rivera Syndrome 20
Hypertrichosis, Congenital Generalized 70
Htc2 20
Cgh 20
Hcg 20

Classifications:



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UMLS 70 C1855900

Summaries for X-Linked Congenital Generalized Hypertrichosis

GARD : 20 X-linked congenital 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 hypertrichosis and hypertrichosis universalis congenita, ambras type. An important gene associated with X-Linked Congenital Generalized Hypertrichosis is FGF13 (Fibroblast Growth Factor 13).

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:

(show top 50) (show all 862)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis 29.4 HTC2 FGF13
2 hypertrichosis universalis congenita, ambras type 11.4
3 peroxisome biogenesis disorder 11a 11.2
4 pediatric cns choriocarcinoma 11.1
5 placental site trophoblastic tumor 10.9
6 ovarian mucinous adenofibroma 10.9
7 ovarian clear cell malignant adenofibroma 10.9
8 chromosome 15q24 deletion syndrome 10.9
9 mesomelic dysplasia, kantaputra type 10.9
10 mesomelia-synostoses syndrome 10.9
11 potocki-lupski syndrome 10.9
12 chromosome 2p16.1-p15 deletion syndrome 10.9
13 peroxisome biogenesis disorder 11b 10.9
14 16p13.11 microduplication syndrome 10.9
15 19p13.12 microdeletion syndrome 10.9
16 1q44 microdeletion syndrome 10.9
17 20p12.3 microdeletion syndrome 10.9
18 8p inverted duplication/deletion syndrome 10.9
19 chromosome 6q25 microdeletion syndrome 10.9
20 ectopic pregnancy 10.8
21 choriocarcinoma 10.8
22 ovarian hyperstimulation syndrome 10.7
23 seminoma 10.5
24 pre-eclampsia 10.5
25 chromosomal triplication 10.5
26 alacrima, achalasia, and mental retardation syndrome 10.4
27 testicular cancer 10.4
28 teratoma 10.4
29 precocious puberty 10.4
30 microcephaly 10.4
31 polycystic ovary syndrome 10.4
32 eclampsia 10.3
33 hypotonia 10.3
34 hair whorl 10.3
35 germinoma 10.3
36 invasive mole 10.3
37 trophoblastic neoplasm 10.3
38 germ cells tumors 10.3
39 autism spectrum disorder 10.3
40 tetanus 10.3
41 autism 10.2
42 cholera 10.2
43 hyperprolactinemia 10.2
44 ovarian cyst 10.2
45 placenta disease 10.2
46 testicular seminoma 10.2
47 hypertelorism 10.2
48 neuroblastoma 10.2
49 hyperthyroidism 10.2
50 ring chromosome 10.2

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

Publications for X-Linked Congenital Generalized Hypertrichosis

Articles related to X-Linked Congenital Generalized Hypertrichosis:

# Title Authors PMID Year
1
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. 61
23603273 2013
2
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. 61
21636067 2011

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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