Details of Disease

General Information of Disease (ID: DISVL46B)

Disease Name X-linked congenital generalized hypertrichosis
Synonyms
Macias-Flores Garcia-Cruz Rivera syndrome; chromosome Xq27.1 Interchromosomal insertion syndrome; chromosome Xq27.1 interchromosomal insertion syndrome; Cgh; hypertrichosis congenital generalized X-linked; hypertrichosis, congenital generalized; hypertrichosis, congenital generalised; hypertrichosis congenital generalised X-linked; HTC2; hCG; Macias Flores-Garcia Cruz-Rivera syndrome; congenital generalised hypertrichosis, Macias-Flores type; congenital generalized hypertrichosis, Macias-Flores type; hypertrichosis, congenital generalized, X-linked dominant
Definition
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
Disease Hierarchy
DISX1C1I: Hypertrichosis lanuginosa congenita
DISVL46B: X-linked congenital generalized hypertrichosis
Disease Identifiers
MONDO ID
MONDO_0010614
MESH ID
C538388
UMLS CUI
C1855900
OMIM ID
307150
MedGen ID
341002
Orphanet ID
79495
SNOMED CT ID
1010628009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STAU1 OTTR5311 Limited Altered Expression [1]
SOX3 OT1CRCOB Supportive X-linked [2]
MDC1 OTEUQH4J Strong Biomarker [3]
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References

1 Regulated expression of Gemin5, Xrn1, Cpeb and Stau1 in the uterus and ovaries after superovulation and the effect of exogenous estradiol and leptin in rodents.Mol Biol Rep. 2019 Apr;46(2):2533-2540. doi: 10.1007/s11033-019-04606-z. Epub 2019 Jan 28.
2 X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. Am J Hum Genet. 2011 Jun 10;88(6):819-826. doi: 10.1016/j.ajhg.2011.05.004.
3 Human Miscarriage Is Associated With Dysregulations in Peripheral Blood-Derived Myeloid Dendritic Cell Subsets.Front Immunol. 2019 Oct 15;10:2440. doi: 10.3389/fimmu.2019.02440. eCollection 2019.