MCID: UNC019
MIFTS: 16

Uncombable Hair Syndrome 2

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uncombable Hair Syndrome 2

MalaCards integrated aliases for Uncombable Hair Syndrome 2:

Name: Uncombable Hair Syndrome 2 57 75 6
Uhs2 57 75
Syndrome, Hair, Uncombable, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
amelioration with age
one patient has been reported (last curated december 2016)


HPO:

32
uncombable hair syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617251
MeSH 44 D006201
SNOMED-CT via HPO 69 258211005 399336001

Summaries for Uncombable Hair Syndrome 2

UniProtKB/Swiss-Prot : 75 Uncombable hair syndrome 2: A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age.

MalaCards based summary : Uncombable Hair Syndrome 2, is also known as uhs2. An important gene associated with Uncombable Hair Syndrome 2 is TGM3 (Transglutaminase 3). Affiliated tissues include heart, and related phenotypes are juvenile cataract and pili canaliculi

OMIM : 57 Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (191480). (617251)

Related Diseases for Uncombable Hair Syndrome 2

Diseases in the Uncombable Hair Syndrome 1 family:

Uncombable Hair Syndrome 2 Uncombable Hair Syndrome 3

Symptoms & Phenotypes for Uncombable Hair Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
juvenile cataract, bilateral

Skin Nails Hair Hair:
normal neonatal hair
dry, frizzy hair
yellow hair color
uncombable hair
slow hair growth
more

Clinical features from OMIM:

617251

Human phenotypes related to Uncombable Hair Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 juvenile cataract 32 HP:0001118
2 pili canaliculi 32 HP:0002235
3 uncombable hair 32 HP:0030056

Drugs & Therapeutics for Uncombable Hair Syndrome 2

Search Clinical Trials , NIH Clinical Center for Uncombable Hair Syndrome 2

Genetic Tests for Uncombable Hair Syndrome 2

Anatomical Context for Uncombable Hair Syndrome 2

MalaCards organs/tissues related to Uncombable Hair Syndrome 2:

41
Heart

Publications for Uncombable Hair Syndrome 2

Variations for Uncombable Hair Syndrome 2

ClinVar genetic disease variations for Uncombable Hair Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGM3 NM_003245.3(TGM3): c.1351C> T (p.Gln451Ter) single nucleotide variant Pathogenic rs779702016 GRCh37 Chromosome 20, 2312665: 2312665
2 TGM3 NM_003245.3(TGM3): c.1351C> T (p.Gln451Ter) single nucleotide variant Pathogenic rs779702016 GRCh38 Chromosome 20, 2332019: 2332019

Expression for Uncombable Hair Syndrome 2

Search GEO for disease gene expression data for Uncombable Hair Syndrome 2.

Pathways for Uncombable Hair Syndrome 2

GO Terms for Uncombable Hair Syndrome 2

Sources for Uncombable Hair Syndrome 2

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
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