HYPT9
MCID: HYP551
MIFTS: 16

Hypotrichosis 9 (HYPT9)

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

Aliases & Classifications for Hypotrichosis 9

MalaCards integrated aliases for Hypotrichosis 9:

Name: Hypotrichosis 9 57 12 13 70
Hypt9 57 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hypotrichosis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110706
OMIM® 57 614237
OMIM Phenotypic Series 57 PS605389
MedGen 41 C3280252
SNOMED-CT via HPO 68 258211005
UMLS 70 C3280252

Summaries for Hypotrichosis 9

Disease Ontology : 12 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.

MalaCards based summary : Hypotrichosis 9, also known as hypt9, is related to hypotrichosis. An important gene associated with Hypotrichosis 9 is HYPT9 (Hypotrichosis 9). Affiliated tissues include eye, and related phenotypes are sparse scalp hair and sparse body hair

More information from OMIM: 614237 PS605389

Related Diseases for Hypotrichosis 9

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

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 10.9

Symptoms & Phenotypes for Hypotrichosis 9

Human phenotypes related to Hypotrichosis 9:

31
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 HP:0002209
2 sparse body hair 31 HP:0002231

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
normal nails

Skin Nails Hair Skin:
normal sweating

Head And Neck Ears:
normal hearing

Head And Neck Teeth:
normal teeth

Skin Nails Hair Hair:
normal eyebrows
normal eyelashes
sparse, thin scalp hair from birth
sparse, thin hair on arms
sparse, thin hair on legs

Clinical features from OMIM®:

614237 (Updated 20-May-2021)

Drugs & Therapeutics for Hypotrichosis 9

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 9

Genetic Tests for Hypotrichosis 9

Anatomical Context for Hypotrichosis 9

MalaCards organs/tissues related to Hypotrichosis 9:

40
Eye

Publications for Hypotrichosis 9

Articles related to Hypotrichosis 9:

# Title Authors PMID Year
1
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3. 57
20054564 2010
2
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. 61
27504742 2017

Variations for Hypotrichosis 9

Expression for Hypotrichosis 9

Search GEO for disease gene expression data for Hypotrichosis 9.

Pathways for Hypotrichosis 9

GO Terms for Hypotrichosis 9

Sources for Hypotrichosis 9

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