MCID: HYP573
MIFTS: 18

Hypotrichosis 5

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 5

MalaCards integrated aliases for Hypotrichosis 5:

Name: Hypotrichosis 5 57 12 73
Marie Unna Hereditary Hypotrichosis 2 57 12
Hypt5 57 12
Muhh2 57 12
Hypotrichosis, Hereditary, Marie Unna Type, 2 13
Marie Unna Hereditary Hypotrichosis 2; Muhh2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 612841
Disease Ontology 12 DOID:0110702
MedGen 42 C2748535
UMLS 73 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).

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

Diseases related to Hypotrichosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 11.1

Symptoms & Phenotypes for Hypotrichosis 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
normal hearing

Head And Neck Teeth:
normal teeth

Skin Nails Hair Nails:
normal nails

Head And Neck Eyes:
thin eyebrows
thin eyelashes

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

Skin Nails Hair Hair:
sparse or absent scalp hair at birth
coarse, wiry, and twisted scalp hair develops in childhood
scalp hair loss worsens at puberty
progressive patterned scalp alopecia
scalp forehead and parietal areas remain bald or sparse
more

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 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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