HYPT10
MCID: HYP544
MIFTS: 15

Hypotrichosis 10 (HYPT10)

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

Aliases & Classifications for Hypotrichosis 10

MalaCards integrated aliases for Hypotrichosis 10:

Name: Hypotrichosis 10 57 12 13 15 70
Hypt10 57 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hypotrichosis 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110707
OMIM® 57 614238
OMIM Phenotypic Series 57 PS605389
MedGen 41 C3280253
SNOMED-CT via HPO 68 258211005
UMLS 70 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). Related phenotypes are sparse body hair and sparse eyebrow

More information from OMIM: 614238 PS605389

Related Diseases for Hypotrichosis 10

Symptoms & Phenotypes for Hypotrichosis 10

Human phenotypes related to Hypotrichosis 10:

31
# Description HPO Frequency HPO Source Accession
1 sparse body hair 31 HP:0002231
2 sparse eyebrow 31 HP:0045075
3 sparse eyelashes 31 HP:0000653

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Hair:
sparse body hair
complete absence of scalp hair at birth
sparse to normal beard hair
sparse to normal mustache hair

Skin Nails Hair Nails:
normal nails

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

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Head And Neck Teeth:
normal teeth

Clinical features from OMIM®:

614238 (Updated 05-Apr-2021)

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

Articles related to Hypotrichosis 10:

# Title Authors PMID Year
1
Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes. 57
20544222 2010

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 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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