MCID: HYP576
MIFTS: 21

Hypotrichosis 4

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 4

MalaCards integrated aliases for Hypotrichosis 4:

Name: Hypotrichosis 4 57 12 75 29 6
Marie Unna Hereditary Hypotrichosis 1 57 12 73
Hypt4 57 12 75
Muhh1 57 12 75
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 75
Hypotrichosis Marie Unna 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypotrichosis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 146550
Disease Ontology 12 DOID:0110701
MedGen 42 C2750815
MeSH 44 D007039
UMLS 73 C2750815

Summaries for Hypotrichosis 4

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Hypotrichosis 4, also known as marie unna hereditary hypotrichosis 1, is related to hypotrichosis 1 and hypotrichosis. An important gene associated with Hypotrichosis 4 is HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor). Related phenotypes are sparse and thin eyebrow and sparse eyelashes

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

Description from OMIM: 146550

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

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

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 10.2
2 hypotrichosis 10.2

Symptoms & Phenotypes for Hypotrichosis 4

Symptoms via clinical synopsis from OMIM:

57
Hair:
hypotrichosis
alopecia
little or no eyebrows, eyelashes or body hair
coarse, wiry, twisted hair in early childhood


Clinical features from OMIM:

146550

Human phenotypes related to Hypotrichosis 4:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sparse and thin eyebrow 32 HP:0000535
2 sparse eyelashes 32 HP:0000653
3 hypotrichosis 32 HP:0001006
4 alopecia 32 HP:0001596
5 sparse body hair 32 HP:0002231
6 pili torti 32 HP:0003777

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:

# Title Authors Year
1
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. ( 22584530 )
2012

Variations for Hypotrichosis 4

ClinVar genetic disease variations for Hypotrichosis 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HR NM_005144.4(HR): c.-320T> C single nucleotide variant Pathogenic rs387906382 GRCh37 Chromosome 8, 21988220: 21988220
2 HR NM_005144.4(HR): c.-320T> C single nucleotide variant Pathogenic rs387906382 GRCh38 Chromosome 8, 22130707: 22130707
3 HR NM_005144.4(HR): c.-315C> T single nucleotide variant Pathogenic rs267606867 GRCh37 Chromosome 8, 21988215: 21988215
4 HR NM_005144.4(HR): c.-315C> T single nucleotide variant Pathogenic rs267606867 GRCh38 Chromosome 8, 22130702: 22130702
5 HR NM_005144.4(HR): c.-249C> G single nucleotide variant Pathogenic rs267606868 GRCh37 Chromosome 8, 21988149: 21988149
6 HR NM_005144.4(HR): c.-249C> G single nucleotide variant Pathogenic rs267606868 GRCh38 Chromosome 8, 22130636: 22130636
7 HR NM_005144.4(HR): c.-218A> G single nucleotide variant Pathogenic rs267606869 GRCh37 Chromosome 8, 21988118: 21988118
8 HR NM_005144.4(HR): c.-218A> G single nucleotide variant Pathogenic rs267606869 GRCh38 Chromosome 8, 22130605: 22130605

Expression for Hypotrichosis 4

Search GEO for disease gene expression data for Hypotrichosis 4.

Pathways for Hypotrichosis 4

GO Terms for Hypotrichosis 4

Sources for Hypotrichosis 4

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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