MCID: HYP544
MIFTS: 14

Hypotrichosis 10

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 10

MalaCards integrated aliases for Hypotrichosis 10:

Name: Hypotrichosis 10 57 12 13 73
Hypt10 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on one consanguineous pakistani family (last curated july 2017)


Classifications:



External Ids:

OMIM 57 614238
Disease Ontology 12 DOID:0110707
MedGen 42 C3280253
UMLS 73 C3280253

Summaries for Hypotrichosis 10

Disease Ontology : 12 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.

MalaCards based summary : Hypotrichosis 10, is also known as hypt10. An important gene associated with Hypotrichosis 10 is HYP10 (Hypotrichosis 10).

Description from OMIM: 614238

Related Diseases for Hypotrichosis 10

Symptoms & Phenotypes for Hypotrichosis 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
sparse eyebrows
sparse eyelashes

Skin Nails Hair Skin:
papules on scalp
reduced number of hair follicles
normal sweat glands
normal sebaceous glands

Skin Nails Hair Hair:
complete absence of scalp hair at birth
sparse to normal beard hair
sparse to normal mustache hair
sparse body hair

Head And Neck Teeth:
normal teeth

Skin Nails Hair Nails:
normal nails


Clinical features from OMIM:

614238

Drugs & Therapeutics for Hypotrichosis 10

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 10

Genetic Tests for Hypotrichosis 10

Anatomical Context for Hypotrichosis 10

Publications for Hypotrichosis 10

Variations for Hypotrichosis 10

Expression for Hypotrichosis 10

Search GEO for disease gene expression data for Hypotrichosis 10.

Pathways for Hypotrichosis 10

GO Terms for Hypotrichosis 10

Sources for Hypotrichosis 10

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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