HYPT3
MCID: HYP515
MIFTS: 31

Hypotrichosis 3 (HYPT3)

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

Aliases & Classifications for Hypotrichosis 3

MalaCards integrated aliases for Hypotrichosis 3:

Name: Hypotrichosis 3 56 12 73 29 6 15 71
Hypotrichosis Simplex of the Scalp 2 56 12 73 13
Hypt3 56 12 73
Htss2 56 12 73
Hypotrichosis Simplex of the Scalp 2; Htss2 56
Hypotrichosis, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on 1 consanguineous pakistani family (last curated july 2017)


HPO:

31
hypotrichosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110700
OMIM 56 613981
OMIM Phenotypic Series 56 PS605389
MeSH 43 D007039
MedGen 41 C3151432
SNOMED-CT via HPO 68 263681008
UMLS 71 C3151432

Summaries for Hypotrichosis 3

OMIM : 56 Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). (613981)

MalaCards based summary : Hypotrichosis 3, also known as hypotrichosis simplex of the scalp 2, is related to mucinoses and atrichia with papular lesions. An important gene associated with Hypotrichosis 3 is KRT74 (Keratin 74), and among its related pathways/superpathways are Keratinization and RAB GEFs exchange GTP for GDP on RABs. Affiliated tissues include eye and t cells, and related phenotypes are sparse scalp hair and hypotrichosis of the scalp

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of KRT74 on chromosome 12q13.13.

UniProtKB/Swiss-Prot : 73 Hypotrichosis 3: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.

Related Diseases for Hypotrichosis 3

Graphical network of the top 20 diseases related to Hypotrichosis 3:



Diseases related to Hypotrichosis 3

Symptoms & Phenotypes for Hypotrichosis 3

Human phenotypes related to Hypotrichosis 3:

31
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 HP:0002209
2 hypotrichosis of the scalp 31 HP:0004782

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Nails:
normal nails

Skin Nails Hair Skin:
normal sweating

Skin Nails Hair Hair:
normal beard hair
sparse scalp hair (at birth)
patchy hair loss pattern
normal mustache hair

Head And Neck Teeth:
normal teeth

Head And Neck Eyes:
normal eyebrows
normal eyelashes

Clinical features from OMIM:

613981

Drugs & Therapeutics for Hypotrichosis 3

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 3

Genetic Tests for Hypotrichosis 3

Genetic tests related to Hypotrichosis 3:

# Genetic test Affiliating Genes
1 Hypotrichosis 3 29 KRT74

Anatomical Context for Hypotrichosis 3

MalaCards organs/tissues related to Hypotrichosis 3:

40
Eye, T Cells

Publications for Hypotrichosis 3

Articles related to Hypotrichosis 3:

# Title Authors PMID Year
1
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 56 6
21188418 2011
2
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. 56
10793007 2000

Variations for Hypotrichosis 3

ClinVar genetic disease variations for Hypotrichosis 3:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT74 NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn)SNV Pathogenic 30719 rs267607477 12:52960899-52960899 12:52567115-52567115

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 3:

73
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Asp482Asn VAR_065951 rs267607477

Expression for Hypotrichosis 3

Search GEO for disease gene expression data for Hypotrichosis 3.

Pathways for Hypotrichosis 3

Pathways related to Hypotrichosis 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 KRT83 KRT74 KRT71
2 11.21 RAB35 RAB1B
3 10.83 RAB35 RAB11B
4 10.61 RAB35 RAB1B RAB11B

GO Terms for Hypotrichosis 3

Cellular components related to Hypotrichosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.72 RAB35 RAB1B RAB11B KRT74 KRT71
2 intermediate filament GO:0005882 9.33 KRT83 KRT74 KRT71
3 recycling endosome membrane GO:0055038 9.26 RAB35 RAB11B
4 anchored component of synaptic vesicle membrane GO:0098993 8.96 RAB35 RAB11B
5 keratin filament GO:0045095 8.8 KRT83 KRT74 KRT71

Biological processes related to Hypotrichosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.43 RAB35 RAB1B RAB11B
2 keratinization GO:0031424 9.33 KRT83 KRT74 KRT71
3 cornification GO:0070268 9.13 KRT83 KRT74 KRT71
4 Rab protein signal transduction GO:0032482 8.8 RAB35 RAB1B RAB11B

Molecular functions related to Hypotrichosis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 9.16 RAB35 RAB11B
2 GTP binding GO:0005525 9.13 RAB35 RAB1B RAB11B
3 GTPase activity GO:0003924 8.8 RAB35 RAB1B RAB11B

Sources for Hypotrichosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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