UHS3
MCID: UNC018
MIFTS: 17

Uncombable Hair Syndrome 3 (UHS3)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uncombable Hair Syndrome 3

MalaCards integrated aliases for Uncombable Hair Syndrome 3:

Name: Uncombable Hair Syndrome 3 57 72 6
Uhs3 57 72
Syndrome, Hair, Uncombable, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
uncombable hair syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617252
MeSH 44 D006201
SNOMED-CT via HPO 68 225570000 258211005

Summaries for Uncombable Hair Syndrome 3

UniProtKB/Swiss-Prot : 72 Uncombable hair syndrome 3: 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 3, is also known as uhs3. An important gene associated with Uncombable Hair Syndrome 3 is TCHH (Trichohyalin). Related phenotypes are uncombable hair and curly hair

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). (617252) (Updated 20-May-2021)

Related Diseases for Uncombable Hair Syndrome 3

Diseases in the Uncombable Hair Syndrome 1 family:

Uncombable Hair Syndrome 2 Uncombable Hair Syndrome 3

Symptoms & Phenotypes for Uncombable Hair Syndrome 3

Human phenotypes related to Uncombable Hair Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 uncombable hair 31 HP:0030056
2 curly hair 31 HP:0002212
3 pili canaliculi 31 HP:0002235

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Hair:
uncombable hair
normal neonatal hair
pili trianguli (seen on scanning em of hair shaft cross-section)
pili canaliculi (seen on scanning em of hair shaft cross-section)
slow hair growth
more

Clinical features from OMIM®:

617252 (Updated 20-May-2021)

Drugs & Therapeutics for Uncombable Hair Syndrome 3

Search Clinical Trials , NIH Clinical Center for Uncombable Hair Syndrome 3

Genetic Tests for Uncombable Hair Syndrome 3

Anatomical Context for Uncombable Hair Syndrome 3

Publications for Uncombable Hair Syndrome 3

Articles related to Uncombable Hair Syndrome 3:

# Title Authors PMID Year
1
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. 6 57
27866708 2016

Variations for Uncombable Hair Syndrome 3

ClinVar genetic disease variations for Uncombable Hair Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCHH NM_007113.4(TCHH):c.1236_1237insGAGGA (p.Leu413fs) Insertion Pathogenic 1031702 GRCh37: 1:152084456-152084457
GRCh38: 1:152111980-152111981
2 TCHH NM_007113.4(TCHH):c.1237_1238del (p.Leu413fs) Deletion Pathogenic 1031703 GRCh37: 1:152084455-152084456
GRCh38: 1:152111979-152111980
3 TCHH NM_007113.4(TCHH):c.1255_1256del (p.Leu419fs) Deletion Pathogenic 1031704 GRCh37: 1:152084437-152084438
GRCh38: 1:152111961-152111962
4 TCHH NM_007113.4(TCHH):c.1272_1273insGAGGA (p.Leu425fs) Insertion Pathogenic 1031705 GRCh37: 1:152084420-152084421
GRCh38: 1:152111944-152111945
5 TCHH NM_007113.4(TCHH):c.1273_1274del (p.Leu425fs) Deletion Pathogenic 1031706 GRCh37: 1:152084419-152084420
GRCh38: 1:152111943-152111944
6 TCHH NM_007113.4(TCHH):c.4774del (p.Glu1592fs) Deletion Pathogenic 1031707 GRCh37: 1:152080919-152080919
GRCh38: 1:152108443-152108443
7 TCHH NM_007113.4(TCHH):c.5029C>T (p.Gln1677Ter) SNV Pathogenic 1031708 GRCh37: 1:152080664-152080664
GRCh38: 1:152108188-152108188
8 TCHH NM_007113.3(TCHH):c.991C>T (p.Gln331Ter) SNV Likely pathogenic 374835 rs201930497 GRCh37: 1:152084702-152084702
GRCh38: 1:152112226-152112226

Expression for Uncombable Hair Syndrome 3

Search GEO for disease gene expression data for Uncombable Hair Syndrome 3.

Pathways for Uncombable Hair Syndrome 3

GO Terms for Uncombable Hair Syndrome 3

Sources for Uncombable Hair Syndrome 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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