UHS1
MCID: UNC017
MIFTS: 33

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 56 73
Uncombable Hair Syndrome 56 74 52 25 58 73 36 6 71
Pili Trianguli Et Canaliculi 56 52 25 58 73
Unmanageable Hair Syndrome 52 25 73
Cheveux Incoiffables 52 25 73
Spun Glass Hair 52 25 73
Uhs 56 25 73
Uhs1 56 73
Syndrome, Hair, Uncombable, Type 1 39
Uncombable Hair Syndrome; Uhs 56
Syndrome, Hair, Uncombable 39
Chevelure En Vadrouille 73

Characteristics:

Orphanet epidemiological data:

58
uncombable hair syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
amelioration with age


HPO:

31
uncombable hair syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 191480
KEGG 36 H01796
MeSH 43 D006201
MESH via Orphanet 44 C536939
ICD10 via Orphanet 33 Q84.1
UMLS via Orphanet 72 C0432347
Orphanet 58 ORPHA1410
UMLS 71 C0432347

Summaries for Uncombable Hair Syndrome 1

NIH Rare Diseases : 52 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 genes PADI3 , 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. T he 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 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly. 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. For unknown reasons, this condition usually improves over time. By adolescence individuals with uncombable hair syndrome have hair that lies flat and has normal or nearly normal texture.

OMIM : 56 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)

KEGG : 36 Uncombable hair syndrome (UHS) is a rare anomaly of the hair shaft characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Both simplex and familial UHS-affected cases with autosomal dominant as well as recessive inheritance have been described. Recently, the identification of causative mutations were reported. No proven therapy exists. In the typical case, improvement may occur over time and spontaneous regression has been reported. Scanning electron microscopy of hair samples provides definitive evidence for diagnosis of clinically suspected UHS and eliminates other hair abnormalities from the differential diagnosis.

UniProtKB/Swiss-Prot : 73 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 : 74 Uncombable hair syndrome is a rare structural anomaly of the hair with a variable degree of effect. It... more...

Related Diseases for Uncombable Hair Syndrome 1

Diseases in the Uncombable Hair Syndrome 1 family:

Uncombable Hair Syndrome 2 Uncombable Hair Syndrome 3

Diseases related to Uncombable Hair Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 kozlowski-krajewska syndrome 12.1
2 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 11.3
3 marie unna congenital hypotrichosis 11.3
4 pernicious anemia 11.3
5 fanconi anemia, complementation group a 11.3
6 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 11.3
7 sickle cell anemia 11.3
8 aplastic anemia 11.3
9 hemolytic anemia 11.3
10 uncombable hair syndrome 2 11.2
11 uncombable hair syndrome 3 11.2
12 atrial fibrillation 11.1
13 shigellosis 11.1
14 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.5
15 chromosome 2q35 duplication syndrome 10.5
16 tooth agenesis 10.5
17 dermatitis 10.5
18 cleft lip 10.5
19 cleft lip/palate 10.5
20 ectodermal dysplasia 10.4
21 loose anagen hair syndrome 10.3
22 autism 10.3
23 autism spectrum disorder 10.3
24 branchiootic syndrome 1 10.2
25 dermatitis, atopic 10.2
26 ige responsiveness, atopic 10.1
27 keratitis, hereditary 10.1
28 neurofibromatosis, type i 10.1
29 wilson disease 10.1
30 pulmonary hypertension 10.1
31 brachydactyly 10.1
32 diffuse alopecia areata 10.1
33 familial woolly hair syndrome 10.1
34 fundus dystrophy 10.1
35 neurofibromatosis 10.1
36 alopecia 10.1
37 acanthamoeba keratitis 10.1
38 pili torti 10.1
39 posttransplant acute limbic encephalitis 10.1
40 inherited retinal disorder 10.1
41 rheumatoid arthritis 10.1
42 scoliosis, isolated 1 10.1
43 dysphasia, familial developmental 10.1
44 fusariosis 10.1
45 specific language impairment 10.1
46 scoliosis 10.1
47 idiopathic scoliosis 10.1
48 inguinal hernia 10.1
49 mastitis 10.1
50 dermatomycosis 10.1

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

Human phenotypes related to Uncombable Hair Syndrome 1:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
2 white hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0011364
3 woolly hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002224
4 trichodysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002552
5 patchy alopecia 31 occasional (7.5%) HP:0002232
6 abnormality of the hair 58 Very frequent (99-80%)
7 alopecia areata 58 Occasional (29-5%)
8 uncombable hair 31 HP:0030056
9 dry hair 31 HP:0011359
10 pili canaliculi 31 HP:0002235

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
uncombable hair
dry hair
normal neonatal hair
frizzy, wiry hair
spun-glass hair
more

Clinical features from OMIM:

191480

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:

40
Heart, Skin

Publications for Uncombable Hair Syndrome 1

Articles related to Uncombable Hair Syndrome 1:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. 61 6 56
27866708 2016
2
Uncombable hair syndrome. 56 61 52
19700017 2009
3
[Uncombable hair syndrome]. 61 6
24629392 2013
4
[Uncombable hair syndrome]. 6 61
22381266 2012
5
Ancient observations of "uncombable hair syndrome". 61 56
8225707 1993
6
The uncombable hair syndrome. 56 61
3632290 1987
7
[Pili canaliculi (uncombable hair syndrome or spun glass hair syndrome). A scanning electron microscope study of ten new cases (author's transl)]. 56 61
7387058 1980
8
[Uncombable hair syndrome. Pili trianguli et canaliculi (author's transl)]. 56 61
736431 1978
9
[Uncombable hair syndrome. 2 new familial cases with scanning electron microscopic study]. 61 56
736432 1978
10
Uncombable hair syndrome. 52 61
17845183 2007
11
Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy. 56
3314509 1987
12
Unruly hair. 56
4063181 1985
13
Uncombable hair: a condition with autosomal dominant inheritance. 56
7125692 1982
14
A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome. 61
32051838 2020
15
Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases. 61
31952341 2020
16
[A girl with unruly hair]. 61
31305964 2019
17
Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease. 61
31049339 2019
18
Transglutaminase diseases: from biochemistry to the bedside. 61
30593123 2019
19
Hypothesis: Folklore perpetuated expression of moon-associated bipolar disorders in anecdotally exaggerated werewolf guise. 61
30593396 2019
20
Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis. 61
29906547 2018
21
Transglutaminases in autoimmune and inherited skin diseases: The phenomena of epitope spreading and functional compensation. 61
28940785 2018
22
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3. 61
28087452 2017
23
[Uncombable hair syndrome: Association of wrongdoers]. 61
28062075 2017
24
Uncombable hair syndrome with a woolly hair nevus. 61
27679409 2017
25
Alopecia in genetic diseases. 61
24566562 2014
26
Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period. 61
24251687 2014
27
A case of uncombable hair syndrome: light microscopy, trichoscopy and scanning electron microscopy. 61
24183230 2013
28
Diverse challenges in pediatric compounding: treating pulmonary hypertension, uncombable hair syndrome, and acanthamoeba keratitis. 61
23965369 2010
29
An unusual presentation of yolk sac tumour (endodermal sinus tumour) in a pre-menarche girl with uncombable hair syndrome. 61
19274561 2009
30
Uncombable hair syndrome. 61
18712019 2008
31
Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I. 61
17958786 2007
32
Uncombable hair syndrome: a clinical report. 61
17526443 2007
33
Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin. 61
17509110 2007
34
What is your diagnosis? Uncombable hair syndrome (pili trianguli et canaliculi). 61
17500372 2007
35
Uncombable hair syndrome: light microscopy diagnosis. 61
16060880 2005
36
A girl with loose anagen hair syndrome and uncombable, spun-glass hair. 61
15916571 2005
37
Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis. 61
11407534 2001
38
Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia. 61
10720982 2000
39
Childhood vulval lichen sclerosus in a patient with ectodermal dysplasia and uncombable hair. 61
9875967 1998
40
What syndrome is this? Uncombable hair syndrome (Pili trianguli et canaliculi). 61
9875973 1998
41
Loose anagen hair syndrome mimicking the uncombable hair syndrome. 61
8646855 1996
42
Some simple theoretical considerations on the bending stiffness of human hair. 61
19245472 1995
43
Hair fibrous protein compositions in some hereditary hair abnormalities determined by two-dimensional polyacrylamide gel electrophoresis. 61
8051316 1994
44
Pili trianguli et canaliculi: a distinctive hair shaft defect leading to uncombable hair. 61
8274794 1993
45
The uncombable hair syndrome. 61
2269020 1990
46
Quantitative assessment of scanning electron microscope defects in uncombable-hair syndrome. 61
2359736 1990
47
Uncombable-hair syndrome. 61
3422852 1987
48
[The "uncombable hair" syndrome or "spun-glass hair"]. 61
4073756 1985
49
[Hypotrichosis congenita hereditaria Maria Unna]. 61
4066319 1985
50
Pili trianguli canaliculi: uncombable hair syndrome in a family with apparent autosomal dominant inheritance. 61
4011511 1985

Variations for Uncombable Hair Syndrome 1

ClinVar genetic disease variations for Uncombable Hair Syndrome 1:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PADI3 NM_016233.2(PADI3):c.881C>T (p.Ala294Val)SNV Pathogenic 374867 rs144080386 1:17597423-17597423 1:17270928-17270928
2 PADI3 NM_016233.2(PADI3):c.335T>A (p.Leu112His)SNV Pathogenic 374868 rs142129409 1:17588689-17588689 1:17262194-17262194
3 PADI3 NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr)SNV Pathogenic 374869 rs144944758 1:17609392-17609392 1:17282897-17282897

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

73
# 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

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 TGM3 PADI3

Sources for Uncombable Hair Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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