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 58 12 13 74
Hypt9 58 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hypotrichosis 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110706
OMIM 58 614237
MedGen 43 C3280252
SNOMED-CT via HPO 70 258211005
UMLS 74 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

Description from OMIM: 614237

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 11.3

Symptoms & Phenotypes for Hypotrichosis 9

Human phenotypes related to Hypotrichosis 9:

33
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 33 HP:0002209
2 sparse body hair 33 HP:0002231

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Eye

Publications for Hypotrichosis 9

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
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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