HYPOTRICHOSIS 7

General Information (adopted from Orphanet):

Synonyms, Signs: HYPOTRICHOSIS, TOTAL, MARI TYPE WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS, INCLUDED
HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 2
HYPOTRICHOSIS, AUTOSOMAL RECESSIVE
ARWH2, INCLUDED
WH/HT, INCLUDED
LAH2
HYPT7
AH
Number of Symptoms 18
OrphanetNr:
OMIM Id: 604379
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000653) Sparse eyelashes 58 / 7739
2
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
3
(HPO:0001006) Hypotrichosis 219 / 7739
4
(HPO:0002224) Woolly hair rare [HPO:skoehler] 26 / 7739
5
(OMIM) Sparse to no body hair (in some patients) 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Trichorrhexis nodora-like anomaly 1 / 7739
8
(OMIM) Twisted hair shaft 3 / 7739
9
(OMIM) Sparse to no eyebrows (in some patients) 1 / 7739
10
(OMIM) Normal skin 5 / 7739
11
(OMIM) Normal teeth 15 / 7739
12
(OMIM) Sparse scalp hair from birth (in some patients) 1 / 7739
13
(OMIM) Sparse to no eyelashes (in some patients) 1 / 7739
14
(OMIM) Sparse to no axillary hair (in some patients) 1 / 7739
15
(OMIM) Normal sweating 13 / 7739
16
(OMIM) Tapered distal end 1 / 7739
17
(OMIM) Normal nails 15 / 7739
18
(OMIM) Comedo-like remnant hair follicles 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rogaev et al. (1999) described a hereditary form of hypotrichosis that is common in the Mari population, a large aboriginal Finno-Ugric population in the Volga-Ural region of Russia. They found 21 families with 26 affected individuals during a ...
Molecular genetics OMIM In 14 Mari families and 36 Chuvash families with hypotrichosis mapping to chromosome 3q26-q27, Kazantseva et al. (2006) sequenced the entire coding regions of all 4 genes within the critical interval for hypotrichosis and found no point mutations. ...
Population genetics OMIM Kazantseva et al. (2006) tested 2,292 chromosomes in population samples collected irrespective of the hypotrichosis phenotype from Volga-Ural and other regions of Russia. Among the Chuvash people the mutant allele frequency was 0.033 and among the Mari it ...