UHS1
MCID: UNC017
MIFTS: 33

Uncombable Hair Syndrome 1 (UHS1)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Uncombable Hair Syndrome 1

MalaCards integrated aliases for Uncombable Hair Syndrome 1:

Name: Uncombable Hair Syndrome 1 57 73 5
Uncombable Hair Syndrome 57 19 42 58 75 73 71
Pili Trianguli Et Canaliculi 57 19 42 58 73
Unmanageable Hair Syndrome 19 42 73
Cheveux Incoiffables 19 42 73
Spun Glass Hair 19 42 73
Uhs 57 42 73
Uhs1 57 73
Chevelure En Vadrouille 73

Characteristics:


Inheritance:

Uncombable Hair Syndrome 1: Autosomal recessive 57
Uncombable Hair Syndrome: Autosomal recessive 58

Age Of Onset:

Uncombable Hair Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
amelioration with age


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 191480
MeSH 43 D006201
MESH via Orphanet 44 C536939
ICD10 via Orphanet 32 Q84.1
UMLS via Orphanet 72 C0432347
Orphanet 58 ORPHA1410
UMLS 71 C0432347

Summaries for Uncombable Hair Syndrome 1

GARD: 19 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. 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 genetic changes 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. The condition often spontaneously regresses in late childhood.

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

MedlinePlus Genetics: 42 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.

UniProtKB/Swiss-Prot: 73 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.

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) (Updated 08-Dec-2022)

Orphanet: 58 Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.

Wikipedia: 75 Uncombable hair syndrome (UHS) is a rare structural anomaly of the hair with a variable degree of... 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 all 45)
# Related Disease Score Top Affiliating Genes
1 loose anagen hair syndrome 29.7 TGM3 PADI3
2 kozlowski-krajewska syndrome 11.7
3 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 11.3
4 uncombable hair syndrome 2 11.0
5 uncombable hair syndrome 3 11.0
6 rapp-hodgkin syndrome 10.4
7 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.4
8 chromosome 2q35 duplication syndrome 10.4
9 dermatitis, atopic 10.4
10 dermatitis, atopic, 2 10.4
11 central centrifugal cicatricial alopecia 10.4
12 tooth agenesis 10.4
13 dermatitis 10.4
14 hair disease 10.4
15 cleft lip 10.4
16 cleft lip/palate 10.4
17 ectodermal dysplasia 10.3
18 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
19 wilson disease 10.2
20 glass syndrome 10.2
21 alopecia areata 10.2
22 alopecia 10.2
23 angel-shaped phalangoepiphyseal dysplasia 10.1
24 alopecia, androgenetic, 1 10.1
25 ige responsiveness, atopic 10.1
26 keratitis, hereditary 10.1
27 neurofibromatosis, type i 10.1
28 nevus, epidermal 10.1
29 nail disorder, nonsyndromic congenital, 4 10.1
30 pili torti, early-onset 10.1
31 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.1
32 pulmonary hypertension 10.1
33 brachydactyly 10.1
34 androgenic alopecia 10.1
35 familial woolly hair syndrome 10.1
36 endodermal sinus tumor 10.1
37 fundus dystrophy 10.1
38 neurofibromatosis 10.1
39 acanthamoeba keratitis 10.1
40 posttransplant acute limbic encephalitis 10.1
41 inherited retinal disorder 10.1
42 inguinal hernia 10.0
43 mastitis 10.0
44 enterocele 10.0
45 precursor t-cell acute lymphoblastic leukemia 10.0

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 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002208
2 white hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011364
3 woolly hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002224
4 trichodysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002552
5 patchy alopecia 30 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 30 HP:0030056
9 dry hair 30 HP:0011359
10 pili canaliculi 30 HP:0002235

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
uncombable hair
dry hair
normal neonatal hair
frizzy, wiry hair
spun-glass hair
more

Clinical features from OMIM®:

191480 (Updated 08-Dec-2022)

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

Organs/tissues related to Uncombable Hair Syndrome 1:

MalaCards : Skin, Heart

Publications for Uncombable Hair Syndrome 1

Articles related to Uncombable Hair Syndrome 1:

(show top 50) (show all 88)
# Title Authors PMID Year
1
A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome. 62 57 5
35279260 2022
2
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. 62 57 5
27866708 2016
3
[Uncombable hair syndrome]. 62 57 5
24629392 2013
4
[Uncombable hair syndrome]. 62 57 5
22381266 2012
5
Uncombable hair syndrome. 62 57
19700017 2009
6
Ancient observations of "uncombable hair syndrome". 62 57
8225707 1993
7
Uncombable hair (pili trianguli et canaliculi): evidence for dominant inheritance with complete penetrance based on scanning electron microscopy. 62 57
3314509 1987
8
The uncombable hair syndrome. 62 57
3632290 1987
9
[Pili canaliculi (uncombable hair syndrome or spun glass hair syndrome). A scanning electron microscope study of ten new cases (author's transl)]. 62 57
7387058 1980
10
[Uncombable hair syndrome. 2 new familial cases with scanning electron microscopic study]. 62 57
736432 1978
11
[Uncombable hair syndrome. Pili trianguli et canaliculi (author's transl)]. 62 57
736431 1978
12
Unruly hair. 57
4063181 1985
13
Uncombable hair: a condition with autosomal dominant inheritance. 57
7125692 1982
14
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. 62
36044230 2022
15
Pili Trianguli et Canaliculi: A Case Report with 10-year Follow-Up. 62
36404882 2022
16
Uncombable hair syndrome and beyond. 62
35751533 2022
17
Localized uncombable hair syndrome: Non-invasive imaging with high-resolution videodermoscopy. 62
33638226 2021
18
Vitamins A, B, C, and D: A Short Review for the Dermatologist. 62
33245705 2021
19
Hair cross-sectioning in uncombable hair syndrome: An epoxy embedding technique. 62
32716598 2020
20
Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study. 62
32428609 2020
21
Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis. 62
32110831 2020
22
A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome. 62
32051838 2020
23
Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases. 62
31952341 2020
24
[A girl with unruly hair]. 62
31305964 2019
25
Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease. 62
31049339 2019
26
Hypothesis: Folklore perpetuated expression of moon-associated bipolar disorders in anecdotally exaggerated werewolf guise. 62
30593396 2019
27
Transglutaminase diseases: from biochemistry to the bedside. 62
30593123 2019
28
Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis. 62
29906547 2018
29
Transglutaminases in autoimmune and inherited skin diseases: The phenomena of epitope spreading and functional compensation. 62
28940785 2018
30
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3. 62
28087452 2017
31
[Uncombable hair syndrome: Association of wrongdoers]. 62
28062075 2017
32
Uncombable hair syndrome with a woolly hair nevus. 62
27679409 2017
33
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I. 62
27292719 2016
34
Prognosis and Management of Congenital Hair Shaft Disorders without Fragility-Part II. 62
27293153 2016
35
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). 62
26858134 2016
36
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 62
25913853 2015
37
Alopecia in genetic diseases. 62
24566562 2014
38
Light microscopic hair abnormalities in children: retrospective review of 119 cases in a 10-year period. 62
24251687 2014
39
A case of uncombable hair syndrome: light microscopy, trichoscopy and scanning electron microscopy. 62
24183230 2013
40
Picture of the month. Uncombable hair (pili trianguli et canaliculi). 62
21135347 2010
41
Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome. 62
20151948 2010
42
Diverse challenges in pediatric compounding: treating pulmonary hypertension, uncombable hair syndrome, and acanthamoeba keratitis. 62
23965369 2010
43
Pathologic changes of skin and hair in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. 62
19697429 2009
44
An unusual presentation of yolk sac tumour (endodermal sinus tumour) in a pre-menarche girl with uncombable hair syndrome. 62
19274561 2009
45
Uncombable hair syndrome. 62
18712019 2008
46
Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I. 62
17958786 2007
47
Uncombable hair syndrome. 62
17845183 2007
48
Uncombable hair syndrome: a clinical report. 62
17526443 2007
49
Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin. 62
17509110 2007
50
What is your diagnosis? Uncombable hair syndrome (pili trianguli et canaliculi). 62
17500372 2007

Variations for Uncombable Hair Syndrome 1

ClinVar genetic disease variations for Uncombable Hair Syndrome 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PADI3 NM_016233.2(PADI3):c.881C>T (p.Ala294Val) SNV Pathogenic
374867 rs144080386 GRCh37: 1:17597423-17597423
GRCh38: 1:17270928-17270928
2 PADI3 NM_016233.2(PADI3):c.335T>A (p.Leu112His) SNV Pathogenic
374868 rs142129409 GRCh37: 1:17588689-17588689
GRCh38: 1:17262194-17262194
3 PADI3 NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr) SNV Pathogenic/Likely Pathogenic
374869 rs144944758 GRCh37: 1:17609392-17609392
GRCh38: 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 8.92 TGM3 PADI3

Sources for Uncombable Hair Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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