MCID: UNC001
MIFTS: 30

Uncombable Hair Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uncombable Hair Syndrome

MalaCards integrated aliases for Uncombable Hair Syndrome:

Name: Uncombable Hair Syndrome 54 50 25 56 71 69
Pili Trianguli Et Canaliculi 50 25 56 71
Unmanageable Hair Syndrome 50 25 71
Cheveux Incoiffables 50 25 71
Spun Glass Hair 50 25 71
Uhs 25 71
Uncombable Hair Syndrome 1 71
Chevelure En Vadrouille 71
Uhs1 71

Characteristics:

Orphanet epidemiological data:

56
uncombable hair syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
amelioration with age


HPO:

32
uncombable hair syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 191480
Orphanet 56 ORPHA1410
MESH via Orphanet 43 C536939
UMLS via Orphanet 70 C0432347
ICD10 via Orphanet 34 Q84.1
MedGen 40 C0432347
MeSH 42 D006201

Summaries for Uncombable Hair Syndrome

NIH Rare Diseases : 50 uncombable hair syndrome (uhs) is a rare disorder of the hair shaft of the scalp. it is usually characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. it may first become apparent from 3 months of age to 12 years of age. most cases are isolated, but in some cases it has been described in association with other diseases, such as ectodermal dysplasias, bork syndrome and angel-shaped phalangoepiphyseal dysplasia. the syndrome has been found to be caused by mutations in the genespadi3, tgm3, and tchh. these three genes code for proteins that are involved in hair shaft formation. the syndrome appears to be inherited in an autosomal recessive fashion; however, cases inherited in an autosomal dominant manner may also exist, as there are other genes involved in hair formation. the condition often spontaneously regresses in late childhood. some published studies suggest that biotin may improve the condition. last updated: 12/19/2016

MalaCards based summary : Uncombable Hair Syndrome, also known as pili trianguli et canaliculi, is related to uncombable hair syndrome 3 and uncombable hair syndrome 2, and has symptoms including coarse hair, woolly hair and white hair. An important gene associated with Uncombable Hair Syndrome is PADI3 (Peptidyl Arginine Deiminase 3). Affiliated tissues include heart and skin.

UniProtKB/Swiss-Prot : 71 Uncombable hair syndrome 1: 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. UHS1 inheritance is autosomal dominant.

Genetics Home Reference : 25 Uncombable hair syndrome is a condition that is characterized by dry, frizzy hair that cannot be combed flat. This condition develops in childhood, often between infancy and age 3, but can appear as late as age 12. Affected children have light-colored hair, described as blond or silvery with a glistening sheen. The hair does not grow downward but out from the scalp in multiple directions. Despite its appearance, the hair is not fragile or brittle, and it grows at a normal or slightly slower rate. Only scalp hair is affected in uncombable hair syndrome.

OMIM : 54
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). (191480)

Wikipedia : 72 Uncombable hair syndrome, also known as Pili trianguli et canaliculi,Spun-glass hair, and Cheveux... more...

Related Diseases for Uncombable Hair Syndrome

Diseases in the Uncombable Hair Syndrome family:

Uncombable Hair Syndrome 3 Uncombable Hair Syndrome 2

Diseases related to Uncombable Hair Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 uncombable hair syndrome 3 12.3
2 uncombable hair syndrome 2 12.3
3 intellectual disability-polydactyly-uncombable hair syndrome 12.0
4 bork stender schmidt syndrome 10.9
5 marie unna congenital hypotrichosis 10.9
6 shigellosis 10.8
7 acanthamoeba keratitis 9.9
8 keratitis 9.9
9 loose anagen hair syndrome 9.9
10 pulmonary hypertension 9.9
11 ectodermal dysplasia 9.9
12 drug addiction 8.9 PADI3 TCHH TGM3

Graphical network of the top 20 diseases related to Uncombable Hair Syndrome:



Diseases related to Uncombable Hair Syndrome

Symptoms & Phenotypes for Uncombable Hair Syndrome

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Hair:
normal neonatal hair
uncombable hair
pili trianguli (seen on scanning em of hair shaft cross-section)
pili canaliculi (seen on scanning em of hair shaft cross-section)
dry hair
more

Clinical features from OMIM:

191480

Human phenotypes related to Uncombable Hair Syndrome:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002208
2 woolly hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002224
3 white hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0011364
4 alopecia areata 56 32 occasional (7.5%) Occasional (29-5%) HP:0002229
5 trichodysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002552
6 uncombable hair 32 HP:0030056
7 pili canaliculi 32 HP:0002235
8 abnormality of the hair 56 Very frequent (99-80%)

Drugs & Therapeutics for Uncombable Hair Syndrome

Search Clinical Trials , NIH Clinical Center for Uncombable Hair Syndrome

Genetic Tests for Uncombable Hair Syndrome

Anatomical Context for Uncombable Hair Syndrome

MalaCards organs/tissues related to Uncombable Hair Syndrome:

39
Heart, Skin

Publications for Uncombable Hair Syndrome

Articles related to Uncombable Hair Syndrome:

(show all 24)
id Title Authors Year
1
Uncombable hair syndrome with a woolly hair nevus. ( 27679409 )
2017
2
Congenital anonychia and uncombable hair syndrome: co-inheritance of homozygous mutations in RSPO4 and PADI3. ( 28087452 )
2017
3
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. ( 27866708 )
2016
4
A case of uncombable hair syndrome: light microscopy, trichoscopy and scanning electron microscopy. ( 24183230 )
2013
5
Diverse Challenges in Pediatric Compounding: Treating Pulmonary Hypertension, Uncombable Hair Syndrome, and Acanthamoeba Keratitis. ( 23965369 )
2010
6
An unusual presentation of yolk sac tumour (endodermal sinus tumour) in a pre-menarche girl with uncombable hair syndrome. ( 19274561 )
2009
7
Uncombable hair syndrome. ( 19700017 )
2009
8
Uncombable hair syndrome. ( 18712019 )
2008
9
What is your diagnosis? Uncombable hair syndrome (pili trianguli et canaliculi). ( 17500372 )
2007
10
Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I. ( 17958786 )
2007
11
Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin. ( 17509110 )
2007
12
Uncombable hair syndrome: a clinical report. ( 17526443 )
2007
13
Uncombable hair syndrome. ( 17845183 )
2007
14
Uncombable hair syndrome: light microscopy diagnosis. ( 16060880 )
2005
15
Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia. ( 10720982 )
2000
16
What syndrome is this? Uncombable hair syndrome (Pili trianguli et canaliculi). ( 9875973 )
1998
17
Loose anagen hair syndrome mimicking the uncombable hair syndrome. ( 8646855 )
1996
18
Quantitative assessment of scanning electron microscope defects in uncombable-hair syndrome. ( 2359736 )
1990
19
The uncombable hair syndrome. ( 2269020 )
1990
20
The uncombable hair syndrome. ( 3632290 )
1987
21
Uncombable-hair syndrome. ( 3422852 )
1987
22
Abnormal fibrous protein patterns in the uncombable hair syndrome. ( 3985672 )
1985
23
Pili trianguli canaliculi: uncombable hair syndrome in a family with apparent autosomal dominant inheritance. ( 4011511 )
1985
24
Uncombable hair syndrome: observations on response to biotin and occurrence in siblings with ectodermal dysplasia. ( 4031156 )
1985

Variations for Uncombable Hair Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Uncombable Hair Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 PADI3 p.Leu112His VAR_078023 rs142129409
2 PADI3 p.Ala294Val VAR_078024 rs144080386
3 PADI3 p.Pro605Thr VAR_078025 rs144944758

ClinVar genetic disease variations for Uncombable Hair Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PADI3 NM_016233.2(PADI3): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs144080386 GRCh37 Chromosome 1, 17597423: 17597423
2 PADI3 NM_016233.2(PADI3): c.335T> A (p.Leu112His) single nucleotide variant Pathogenic rs142129409 GRCh37 Chromosome 1, 17588689: 17588689
3 PADI3 NM_016233.2(PADI3): c.1813C> A (p.Pro605Thr) single nucleotide variant Pathogenic rs144944758 GRCh37 Chromosome 1, 17609392: 17609392

Expression for Uncombable Hair Syndrome

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

Pathways for Uncombable Hair Syndrome

GO Terms for Uncombable Hair Syndrome

Biological processes related to Uncombable Hair Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.62 TCHH TGM3

Molecular functions related to Uncombable Hair Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 PADI3 TCHH TGM3

Sources for Uncombable Hair Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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