HYPT5
MCID: HYP573
MIFTS: 19

Hypotrichosis 5 (HYPT5)

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

Aliases & Classifications for Hypotrichosis 5

MalaCards integrated aliases for Hypotrichosis 5:

Name: Hypotrichosis 5 58 12 74
Marie Unna Hereditary Hypotrichosis 2 58 12
Hypt5 58 12
Muhh2 58 12
Hypotrichosis, Hereditary, Marie Unna Type, 2 13
Marie Unna Hereditary Hypotrichosis 2; Muhh2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on one 4-generation chinese family (last curated july 2017)


Classifications:



External Ids:

Disease Ontology 12 DOID:0110702
OMIM 58 612841
MedGen 43 C2748535
SNOMED-CT via HPO 70 278040002 56317004
UMLS 74 C2748535

Summaries for Hypotrichosis 5

Disease Ontology : 12 A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3.

MalaCards based summary : Hypotrichosis 5, also known as marie unna hereditary hypotrichosis 2, is related to hypotrichosis. An important gene associated with Hypotrichosis 5 is MUHH2 (Hypotrichosis, Hereditary, Marie Unna Type, 2). Related phenotypes are alopecia and sparse eyelashes

Description from OMIM: 612841

Related Diseases for Hypotrichosis 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 11.3

Symptoms & Phenotypes for Hypotrichosis 5

Human phenotypes related to Hypotrichosis 5:

33
# Description HPO Frequency HPO Source Accession
1 alopecia 33 HP:0001596
2 sparse eyelashes 33 HP:0000653
3 thin eyebrow 33 HP:0045074
4 absent axillary hair 33 HP:0002221
5 absent pubic hair 33 HP:0002555

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
absent axillary hair
absent pubic hair
thin eyelashes
thin eyebrows
sparse or absent scalp hair at birth
more
Head And Neck Teeth:
normal teeth

Head And Neck Ears:
normal hearing

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Skin:
normal sweating
marked reduction of mature hair follicles

Head And Neck Eyes:
thin eyelashes
thin eyebrows

Clinical features from OMIM:

612841

Drugs & Therapeutics for Hypotrichosis 5

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 5

Genetic Tests for Hypotrichosis 5

Anatomical Context for Hypotrichosis 5

Publications for Hypotrichosis 5

Variations for Hypotrichosis 5

Expression for Hypotrichosis 5

Search GEO for disease gene expression data for Hypotrichosis 5.

Pathways for Hypotrichosis 5

GO Terms for Hypotrichosis 5

Sources for Hypotrichosis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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