HYPT4
MCID: HYP576
MIFTS: 32

Hypotrichosis 4 (HYPT4)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 4

MalaCards integrated aliases for Hypotrichosis 4:

Name: Hypotrichosis 4 57 12 73 29 6 15
Marie Unna Hereditary Hypotrichosis 1 57 12 71
Hypt4 57 12 73
Muhh1 57 12 73
Hypotrichosis, Marie Unna Type, 1 57 12
Hypotrichosis, Hereditary, Marie Unna Type, 1 13
Marie Unna Hereditary Hypotrichosis 1; Muhh1 57
Marie Unna Hereditary Hypotrichosis Type 1 73
Hypotrichosis Marie Unna 1 73
Hypotrichosis, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
hypotrichosis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110701
OMIM® 57 146550
OMIM Phenotypic Series 57 PS605389
MeSH 44 D007039
MedGen 41 C2750815
UMLS 71 C2750815

Summaries for Hypotrichosis 4

OMIM® : 57 Hypotrichosis-4 (HYPT4), also known as Marie Unna hereditary hypotrichosis, 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). See also MUHH2 (612841), which maps to chromosome 1. For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. (146550) (Updated 05-Mar-2021)

MalaCards based summary : Hypotrichosis 4, also known as marie unna hereditary hypotrichosis 1, is related to hypotrichosis and hypotrichosis 5. An important gene associated with Hypotrichosis 4 is HR (HR Lysine Demethylase And Nuclear Receptor Corepressor), and among its related pathways/superpathways is Histidine metabolism. Related phenotypes are alopecia and sparse body hair

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of HR on chromosome 8p21.3.

UniProtKB/Swiss-Prot : 73 Hypotrichosis 4: 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.

Related Diseases for Hypotrichosis 4

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 alopecia 31 HP:0001596
2 sparse body hair 31 HP:0002231
3 sparse hair 31 HP:0008070
4 sparse eyelashes 31 HP:0000653
5 pili torti 31 HP:0003777
6 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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 29 HR

Anatomical Context for Hypotrichosis 4

Publications for Hypotrichosis 4

Articles related to Hypotrichosis 4:

(show all 16)
# Title Authors PMID Year
1
Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report. 57 6
20659777 2011
2
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. 6 57
20814945 2010
3
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. 57 6
19122663 2009
4
Translation matters: protein synthesis defects in inherited disease. 6 57
17680008 2007
5
A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family. 6 57
11069461 2000
6
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis. 57 6
10854110 2000
7
Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless. 57 6
10777357 2000
8
Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis. 6
19897589 2010
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
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. 61
4281327 1971

Variations for Hypotrichosis 4

ClinVar genetic disease variations for Hypotrichosis 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HR NM_005144.4(HR):c.-320T>C SNV Pathogenic 7341 rs387906382 8:21988220-21988220 8:22130707-22130707
2 HR NM_005144.4(HR):c.-315C>T SNV Pathogenic 7342 rs267606867 8:21988215-21988215 8:22130702-22130702
3 HR NM_005144.4(HR):c.-249C>G SNV Pathogenic 7343 rs267606868 8:21988149-21988149 8:22130636-22130636
4 HR NM_005144.4(HR):c.-218A>G SNV Pathogenic 7344 rs267606869 8:21988118-21988118 8:22130605-22130605
5 HR NM_005144.5(HR):c.-319G>A SNV Pathogenic 830233 8:21988219-21988219 8:22130706-22130706

Expression for Hypotrichosis 4

Search GEO for disease gene expression data for Hypotrichosis 4.

Pathways for Hypotrichosis 4

Pathways related to Hypotrichosis 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.14 CNDP1 CARNMT1

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 peptide transport GO:0015833 9.26 SLC15A4 SLC15A3
2 dipeptide import across plasma membrane GO:0140206 9.16 SLC15A4 SLC15A3
3 positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070434 8.96 SLC15A4 SLC15A3
4 peptidoglycan transport GO:0015835 8.62 SLC15A4 SLC15A3

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 9.43 SLC16A12 SLC15A4 SLC15A3
2 symporter activity GO:0015293 9.33 SLC16A12 SLC15A4 SLC15A3
3 dipeptide transmembrane transporter activity GO:0071916 8.96 SLC15A4 SLC15A3
4 peptidoglycan transmembrane transporter activity GO:0015647 8.62 SLC15A4 SLC15A3

Sources for Hypotrichosis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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