X-linked congenital generalized hypertrichosis

General Information (adopted from Orphanet):

Synonyms, Signs: HTC2
HCG
CGH
CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME
Congenital generalized hypertrichosis, Macias-Flores type
Macias Flores-Garcia Cruz-Rivera syndrome
Number of Symptoms 6
OrphanetNr: 79495
OMIM Id: 307150
ICD-10: Q84.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hypertrichosis lanuginosa congenita
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
2
 (HPO:0001007) Hirsutism 91 / 7739
3
 (HPO:0004540) Congenital, generalized hypertrichosis 11 / 7739
4
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
5
 (OMIM) Hirsutism, asymmetric and patchy, in females 1 / 7739
6
 (OMIM) Congenital generalized hypertrichosis in males 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Macias-Flores et al. (1984) reported a Mexican family with an X-linked dominant form of congenital generalized hypertrichosis. Males were more severely affected than females. Affected females showed asymmetric, somewhat patchy hirsutism consistent with lyonization. Affected persons were observed ...
Molecular genetics OMIM In 4 affected individuals, 2 male and 2 female, from a 5-generation Chinese family with congenital generalized hypertrichosis and scoliosis mapping to chromosome Xq26.3-q27.2, Zhu et al. (2011) performed a genomewide high-resolution copy number variation (CNV) scan, followed ...