UHS2
MCID: UNC019
MIFTS: 15

Uncombable Hair Syndrome 2 (UHS2)

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 58 76 6
Uhs2 58 76
Syndrome, Hair, Uncombable, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
uncombable hair syndrome 2:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 617251
MeSH 45 D006201
SNOMED-CT via HPO 70 258211005 399336001

Summaries for Uncombable Hair Syndrome 2

UniProtKB/Swiss-Prot : 76 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). Related phenotypes are pili canaliculi and juvenile cataract

OMIM : 58 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

Human phenotypes related to Uncombable Hair Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 pili canaliculi 33 HP:0002235
2 juvenile cataract 33 HP:0001118
3 uncombable hair 33 HP:0030056

Symptoms via clinical synopsis from OMIM:

58
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)
dry, frizzy hair
more
Head And Neck Eyes:
juvenile cataract, bilateral

Clinical features from OMIM:

617251

Drugs & Therapeutics for Uncombable Hair Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Ibrutinib Therapy Effect on Left Atrial Function Recruiting NCT03751410

Search NIH Clinical Center for Uncombable Hair Syndrome 2

Genetic Tests for Uncombable Hair Syndrome 2

Anatomical Context for Uncombable Hair Syndrome 2

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 GRCh38 Chromosome 20, 2332019: 2332019
2 TGM3 NM_003245.3(TGM3): c.1351C> T (p.Gln451Ter) single nucleotide variant Pathogenic rs779702016 GRCh37 Chromosome 20, 2312665: 2312665

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....