UHS1
MCID: UNC017
MIFTS: 34

Uncombable Hair Syndrome 1 (UHS1)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Uncombable Hair Syndrome 1

MalaCards integrated aliases for Uncombable Hair Syndrome 1:

Name: Uncombable Hair Syndrome 1 57 75
Uncombable Hair Syndrome 57 76 53 25 59 75 37 6 73
Pili Trianguli Et Canaliculi 57 53 25 59 75
Unmanageable Hair Syndrome 53 25 75
Cheveux Incoiffables 53 25 75
Spun Glass Hair 53 25 75
Uhs 57 25 75
Uhs1 57 75
Syndrome, Hair, Uncombable, Type 1 40
Uncombable Hair Syndrome; Uhs 57
Syndrome, Hair, Uncombable 40
Chevelure En Vadrouille 75

Characteristics:

Orphanet epidemiological data:

59
uncombable hair syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
amelioration with age


HPO:

32
uncombable hair syndrome 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 191480
Orphanet 59 ORPHA1410
UMLS via Orphanet 74 C0432347
ICD10 via Orphanet 34 Q84.1
MESH via Orphanet 45 C536939
MedGen 42 C0432347
MeSH 44 D006201
KEGG 37 H01796
UMLS 73 C0432347

Summaries for Uncombable Hair Syndrome 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Uncombable Hair Syndrome 1, also known as uncombable hair syndrome, is related to kozlowski-krajewska syndrome and bork stender schmidt syndrome. An important gene associated with Uncombable Hair Syndrome 1 is PADI3 (Peptidyl Arginine Deiminase 3). Affiliated tissues include heart and skin, and related phenotypes are coarse hair and white hair

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 : 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). (191480)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Uncombable hair syndrome, also known as Pili trianguli et canaliculi,Spun-glass hair,, Struwwelpeter... more...

Related Diseases for Uncombable Hair Syndrome 1

Graphical network of the top 20 diseases related to Uncombable Hair Syndrome 1:



Diseases related to Uncombable Hair Syndrome 1

Symptoms & Phenotypes for Uncombable Hair Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
uncombable hair
dry hair
normal neonatal hair
frizzy, wiry hair
spun-glass hair
more

Clinical features from OMIM:

191480

Human phenotypes related to Uncombable Hair Syndrome 1:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
2 white hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0011364
3 woolly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002224
4 alopecia areata 59 32 occasional (7.5%) Occasional (29-5%) HP:0002229
5 trichodysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002552
6 abnormality of the hair 59 Very frequent (99-80%)
7 pili canaliculi 32 HP:0002235
8 uncombable hair 32 HP:0030056
9 dry hair 32 HP:0011359

MGI Mouse Phenotypes related to Uncombable Hair Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.62 PADI3 TGM3

Drugs & Therapeutics for Uncombable Hair Syndrome 1

Search Clinical Trials , NIH Clinical Center for Uncombable Hair Syndrome 1

Genetic Tests for Uncombable Hair Syndrome 1

Anatomical Context for Uncombable Hair Syndrome 1

MalaCards organs/tissues related to Uncombable Hair Syndrome 1:

41
Heart, Skin

Publications for Uncombable Hair Syndrome 1

Articles related to Uncombable Hair Syndrome 1:

(show all 28)
# Title Authors Year
1
Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis. ( 29906547 )
2018
2
Uncombable hair syndrome with a woolly hair nevus. ( 27679409 )
2017
3
Congenital anonychia and uncombable hair syndrome: co-inheritance of homozygous mutations in RSPO4 and PADI3. ( 28087452 )
2017
4
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. ( 27866708 )
2016
5
A case of uncombable hair syndrome: light microscopy, trichoscopy and scanning electron microscopy. ( 24183230 )
2013
6
Diverse Challenges in Pediatric Compounding: Treating Pulmonary Hypertension, Uncombable Hair Syndrome, and Acanthamoeba Keratitis. ( 23965369 )
2010
7
Uncombable hair syndrome. ( 19700017 )
2009
8
An unusual presentation of yolk sac tumour (endodermal sinus tumour) in a pre-menarche girl with uncombable hair syndrome. ( 19274561 )
2009
9
Uncombable hair syndrome. ( 18712019 )
2008
10
What is your diagnosis? Uncombable hair syndrome (pili trianguli et canaliculi). ( 17500372 )
2007
11
Uncombable hair syndrome: a clinical report. ( 17526443 )
2007
12
Uncombable hair syndrome. ( 17845183 )
2007
13
Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I. ( 17958786 )
2007
14
Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin. ( 17509110 )
2007
15
Uncombable hair syndrome: light microscopy diagnosis. ( 16060880 )
2005
16
Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia. ( 10720982 )
2000
17
What syndrome is this? Uncombable hair syndrome (Pili trianguli et canaliculi). ( 9875973 )
1998
18
Loose anagen hair syndrome mimicking the uncombable hair syndrome. ( 8646855 )
1996
19
Ancient observations of "uncombable hair syndrome". ( 8225707 )
1993
20
The uncombable hair syndrome. ( 2269020 )
1990
21
Quantitative assessment of scanning electron microscope defects in uncombable-hair syndrome. ( 2359736 )
1990
22
Uncombable-hair syndrome. ( 3422852 )
1987
23
The uncombable hair syndrome. ( 3632290 )
1987
24
Abnormal fibrous protein patterns in the uncombable hair syndrome. ( 3985672 )
1985
25
Pili trianguli canaliculi: uncombable hair syndrome in a family with apparent autosomal dominant inheritance. ( 4011511 )
1985
26
Uncombable hair syndrome: observations on response to biotin and occurrence in siblings with ectodermal dysplasia. ( 4031156 )
1985
27
[Pili canaliculi (uncombable hair syndrome or spun glass hair syndrome). A scanning electron microscope study of ten new cases (author's transl)]. ( 7387058 )
1980
28
[Uncombable hair syndrome. Pili trianguli et canaliculi (author's transl)]. ( 736431 )
1978

Variations for Uncombable Hair Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Uncombable Hair Syndrome 1:

75
# 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 1:

6
# 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.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs144080386 GRCh38 Chromosome 1, 17270928: 17270928
3 PADI3 NM_016233.2(PADI3): c.335T> A (p.Leu112His) single nucleotide variant Pathogenic rs142129409 GRCh37 Chromosome 1, 17588689: 17588689
4 PADI3 NM_016233.2(PADI3): c.335T> A (p.Leu112His) single nucleotide variant Pathogenic rs142129409 GRCh38 Chromosome 1, 17262194: 17262194
5 PADI3 NM_016233.2(PADI3): c.1813C> A (p.Pro605Thr) single nucleotide variant Pathogenic rs144944758 GRCh37 Chromosome 1, 17609392: 17609392
6 PADI3 NM_016233.2(PADI3): c.1813C> A (p.Pro605Thr) single nucleotide variant Pathogenic rs144944758 GRCh38 Chromosome 1, 17282897: 17282897

Expression for Uncombable Hair Syndrome 1

Search GEO for disease gene expression data for Uncombable Hair Syndrome 1.

Pathways for Uncombable Hair Syndrome 1

GO Terms for Uncombable Hair Syndrome 1

Molecular functions related to Uncombable Hair Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.62 PADI3 TGM3

Sources for Uncombable Hair Syndrome 1

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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