HYPT4
MCID: HYP576
MIFTS: 33

Hypotrichosis 4 (HYPT4)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Hypotrichosis 4

MalaCards integrated aliases for Hypotrichosis 4:

Name: Hypotrichosis 4 57 11 73 28 5 14
Marie Unna Hereditary Hypotrichosis 1 57 11 71
Hypt4 57 11 73
Muhh1 57 11 73
Hypotrichosis, Marie Unna Type, 1 57 11
Hypotrichosis, Hereditary, Marie Unna Type, 1 12
Marie Unna Hereditary Hypotrichosis Type 1 73
Hypotrichosis Marie Unna 1 73
Hypotrichosis, Type 4 38

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110701
OMIM® 57 146550
OMIM Phenotypic Series 57 PS605389
MeSH 43 D007039
MedGen 40 C2750815
SNOMED-CT via HPO 69 278040002 56317004
UMLS 71 C2750815

Summaries for Hypotrichosis 4

OMIM®: 57 Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis-1 (MUHH1), is an autosomal dominant form of hair loss characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth. Coarse, wiry hair begins to grow during childhood. Around puberty, progressive hair loss occurs in the affected patients. Although the disorder has the potential to affect all hair shafts, progressive and patterned alopecia of the scalp is the main manifestation of the disorder (summary by Mansur et al., 2010). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. (146550) (Updated 08-Dec-2022)

MalaCards based summary: Hypotrichosis 4, also known as marie unna hereditary hypotrichosis 1, is related to hypotrichosis 1 and hypotrichosis 7. An important gene associated with Hypotrichosis 4 is HRURF (HR Upstream Open Reading Frame). Related phenotypes are alopecia and sparse scalp hair

UniProtKB/Swiss-Prot: 73 An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood.

Disease Ontology: 11 A hypotrichosis that has material basis in a autosomal dominant mutation of HR on chromosome 8p21.3.

Related Diseases for Hypotrichosis 4

Diseases in the Hypotrichosis family:

Hypotrichosis 2 Hypotrichosis 4
Hypotrichosis 8 Hypotrichosis 7
Hypotrichosis 1 Hypotrichosis 6
Hypotrichosis 5 Hypotrichosis 3
Hypotrichosis 9 Hypotrichosis 10
Hypotrichosis 11 Hypotrichosis 12
Hypotrichosis 13 Hypotrichosis 14

Diseases related to Hypotrichosis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 30.8 LIPH KRT74
2 hypotrichosis 7 30.0 SNRPE LPAR6 LIPH KRT74
3 hypotrichosis 28.8 SNRPE LPAR6 LIPH KRT74 KRT71 HRURF
4 hypotrichosis 5 11.0
5 alopecia universalis congenita 10.3
6 pili torti, early-onset 10.3
7 alopecia 10.3
8 marie unna congenital hypotrichosis 10.3
9 mucinoses 10.1 KRT74 KRT71
10 nonsyndromic congenital nail disorder 10.0 KRT74 KRT71
11 woolly hair, autosomal recessive 3 10.0 LPAR6 LIPH
12 nail disorder, nonsyndromic congenital, 4 9.9 KRT74 KRT71
13 hypotrichosis, congenital, with juvenile macular dystrophy 9.9 LPAR6 LIPH
14 ectodermal dysplasia 6, hair/nail type 9.9 KRT74 HOXC13
15 ectodermal dysplasia 5, hair/nail type 9.9 KRT74 HOXC13
16 hypotrichosis 2 9.8 LPAR6 LIPH KRT74
17 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8 KRT74 KRT71
18 hypotrichosis simplex 9.8 SNRPE LPAR6 LIPH
19 ectodermal dysplasia 9, hair/nail type 9.8 KRT74 HOXC13
20 ectodermal dysplasia 7, hair/nail type 9.8 KRT74 HOXC13
21 atrichia with papular lesions 9.7 LPAR6 LIPH KRT74 HR
22 hypotrichosis 11 9.7 SNRPE LPAR6 LIPH KRT74
23 woolly hair, autosomal dominant 9.7 LPAR6 LIPH KRT74 KRT71
24 hypotrichosis 3 9.7 LPAR6 LIPH KRT74 KRT71
25 hypotrichosis 6 9.5 SNRPE LPAR6 LIPH KRT74 KRT71
26 hypotrichosis 13 9.5 SNRPE LPAR6 LIPH KRT74 KRT71
27 hypotrichosis 8 9.5 SNRPE LPAR6 LIPH KRT74 KRT71
28 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.4 LPAR6 LIPH KRT71 HOXC13
29 ectodermal dysplasia 4, hair/nail type 9.3 LPAR6 LIPH KRT74 KRT71 HOXC13
30 familial woolly hair syndrome 9.3 LPAR6 LIPH KRT74 KRT71 HOXC13
31 hair disease 9.3 LPAR6 LIPH KRT74 KRT71 HOXC13
32 monilethrix 9.2 LPAR6 LIPH KRT74 KRT71 HOXC13

Graphical network of the top 20 diseases related to Hypotrichosis 4:



Diseases related to Hypotrichosis 4

Symptoms & Phenotypes for Hypotrichosis 4

Human phenotypes related to Hypotrichosis 4:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 30 Very rare (1%) HP:0001596
2 sparse scalp hair 30 Very rare (1%) HP:0002209
3 sparse body hair 30 Very rare (1%) HP:0002231
4 sparse eyebrow 30 Very rare (1%) HP:0045075
5 uncombable hair 30 Very rare (1%) HP:0030056
6 sparse eyelashes 30 HP:0000653

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
alopecia
hypotrichosis
little or no eyebrows, eyelashes or body hair
coarse, wiry, twisted hair in early childhood

Clinical features from OMIM®:

146550 (Updated 08-Dec-2022)

Drugs & Therapeutics for Hypotrichosis 4

Search Clinical Trials, NIH Clinical Center for Hypotrichosis 4

Genetic Tests for Hypotrichosis 4

Genetic tests related to Hypotrichosis 4:

# Genetic test Affiliating Genes
1 Hypotrichosis 4 28 HRURF

Anatomical Context for Hypotrichosis 4

Publications for Hypotrichosis 4

Articles related to Hypotrichosis 4:

(show all 17)
# Title Authors PMID Year
1
Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. 57 5
20659777 2011
2
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. 57 5
20814945 2010
3
Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis. 57 5
19897589 2010
4
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. 57 5
19122663 2009
5
Translation matters: protein synthesis defects in inherited disease. 57 5
17680008 2007
6
A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family. 57 5
11069461 2000
7
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis. 57 5
10854110 2000
8
Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless. 57 5
10777357 2000
9
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. 57
19513791 2009
10
Refinement of a locus for Marie Unna hereditary hypotrichosis to a 1.1-cM interval at 8p21.3. 57
15149494 2004
11
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. 57
10417283 1999
12
Marie Unna hereditary hypotrichosis. 57
10356404 1999
13
Hereditary hypotrichosis. A previously undescribed syndrome. 57
508598 1979
14
Hereditary trichodysplasia: Marie Unna's hypotrichosis. 57
5127973 1971
15
[Hypotrichosis congenital hereditaria type M. Unna]. 57
13125399 1953
16
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities. 62
22584530 2012
17
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. 62
4281327 1971

Variations for Hypotrichosis 4

ClinVar genetic disease variations for Hypotrichosis 4:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HR, HRURF NM_005144.5(HR):c.-319G>A SNV Pathogenic
830233 rs1827030121 GRCh37: 8:21988219-21988219
GRCh38: 8:22130706-22130706
2 HR, HRURF NM_005144.5(HR):c.-218A>G SNV Pathogenic
7344 rs267606869 GRCh37: 8:21988118-21988118
GRCh38: 8:22130605-22130605
3 HR, HRURF NM_005144.5(HR):c.-249C>G SNV Pathogenic
7343 rs267606868 GRCh37: 8:21988149-21988149
GRCh38: 8:22130636-22130636
4 HR, HRURF NM_005144.5(HR):c.-315C>T SNV Pathogenic
7342 rs267606867 GRCh37: 8:21988215-21988215
GRCh38: 8:22130702-22130702
5 HR, HRURF NM_005144.5(HR):c.-320T>C SNV Pathogenic
7341 rs387906382 GRCh37: 8:21988220-21988220
GRCh38: 8:22130707-22130707

Expression for Hypotrichosis 4

Search GEO for disease gene expression data for Hypotrichosis 4.

Pathways for Hypotrichosis 4

GO Terms for Hypotrichosis 4

Biological processes related to Hypotrichosis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.88 SLC15A4 SLC15A3 SLC15A2
2 positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070434 9.67 SLC15A4 SLC15A3
3 regulation of nucleotide-binding oligomerization domain containing signaling pathway GO:0070424 9.62 SLC15A4 SLC15A2
4 dipeptide import across plasma membrane GO:0140206 9.43 SLC15A4 SLC15A3 SLC15A2
5 peptide transport GO:0015833 9.33 SLC15A4 SLC15A3 SLC15A2
6 oligopeptide transport GO:0006857 9.26 SLC15A4 SLC15A2
7 peptidoglycan transport GO:0015835 9.1 SLC15A4 SLC15A3 SLC15A2

Molecular functions related to Hypotrichosis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.87 SLC16A12 SLC15A4 SLC15A3 SLC15A2
2 peptidoglycan transmembrane transporter activity GO:0015647 9.56 SLC15A4 SLC15A3
3 symporter activity GO:0015293 9.55 SLC16A12 SLC15A4 SLC15A3 SLC15A2
4 dipeptide transmembrane transporter activity GO:0071916 9.43 SLC15A4 SLC15A3 SLC15A2
5 peptide:proton symporter activity GO:0015333 9.1 SLC15A4 SLC15A3 SLC15A2

Sources for Hypotrichosis 4

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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