MCID: HYP515
MIFTS: 30

Hypotrichosis 3

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 3

MalaCards integrated aliases for Hypotrichosis 3:

Name: Hypotrichosis 3 57 12 75 29 6 15 73
Hypotrichosis Simplex of the Scalp 2 57 12 75 13
Hypt3 57 12 75
Htss2 57 12 75
Hypotrichosis Simplex of the Scalp 2; Htss2 57
Hypotrichosis, Type 3 ) 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hypotrichosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613981
Disease Ontology 12 DOID:0110700
MedGen 42 C3151432
MeSH 44 D007039
SNOMED-CT via HPO 69 263681008
UMLS 73 C3151432

Summaries for Hypotrichosis 3

OMIM : 57 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 warburg micro syndrome 4 and rectum adenocarcinoma. An important gene associated with Hypotrichosis 3 is KRT74 (Keratin 74), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Related phenotypes are hypotrichosis of the scalp and Increased cilium length after serum starvation

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

UniProtKB/Swiss-Prot : 75 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

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

Diseases related to Hypotrichosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 warburg micro syndrome 4 9.8 AGFG1 RAB1B
2 rectum adenocarcinoma 9.8 RAB11B RAB1A
3 cardiomyopathy, dilated, 1p 8.9 ARF3 RAP2B

Symptoms & Phenotypes for Hypotrichosis 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
normal eyebrows
normal eyelashes

Skin Nails Hair Skin:
normal sweating

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

Head And Neck Teeth:
normal teeth

Skin Nails Hair Nails:
normal nails


Clinical features from OMIM:

613981

Human phenotypes related to Hypotrichosis 3:

32
# Description HPO Frequency HPO Source Accession
1 hypotrichosis of the scalp 32 HP:0004782

GenomeRNAi Phenotypes related to Hypotrichosis 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cilium length after serum starvation GR00149-A-1 9.4 RAB11B RAB35 RAP2B
2 Increased cilium length after serum starvation GR00149-A-2 9.4 RAB11B RAB35 RAP2B

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

Publications for Hypotrichosis 3

Variations for Hypotrichosis 3

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

75
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Asp482Asn VAR_065951 rs267607477

ClinVar genetic disease variations for Hypotrichosis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT74 NM_175053.3(KRT74): c.1444G> A (p.Asp482Asn) single nucleotide variant Pathogenic rs267607477 GRCh37 Chromosome 12, 52960899: 52960899
2 KRT74 NM_175053.3(KRT74): c.1444G> A (p.Asp482Asn) single nucleotide variant Pathogenic rs267607477 GRCh38 Chromosome 12, 52567115: 52567115

Expression for Hypotrichosis 3

Search GEO for disease gene expression data for Hypotrichosis 3.

Pathways for Hypotrichosis 3

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 cytosol GO:0005829 9.95 AGFG1 KRT74 RAB11B RAB1A RAB1B RAB35
2 extracellular exosome GO:0070062 9.7 ARF3 KRT74 RAB11B RAB1A RAB1B RAB35
3 endosome GO:0005768 9.67 RAB11B RAB1A RAB35 RAP2B
4 Golgi membrane GO:0000139 9.62 ARF3 RAB1A RAB1B RAB35
5 recycling endosome GO:0055037 9.46 RAB11B RAP2B
6 melanosome GO:0042470 9.43 RAB1A RAB35
7 anchored component of synaptic vesicle membrane GO:0098993 9.26 RAB11B RAB35
8 recycling endosome membrane GO:0055038 9.13 RAB11B RAB35 RAP2B
9 endomembrane system GO:0012505 8.92 RAB11B RAB1A RAB1B RAB35

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.71 RAB11B RAB1A RAB1B RAB35
2 post-translational protein modification GO:0043687 9.69 RAB11B RAB1A RAB1B
3 vesicle-mediated transport GO:0016192 9.67 AGFG1 ARF3 RAB1A
4 ER to Golgi vesicle-mediated transport GO:0006888 9.65 RAB1A RAB1B RAB35
5 protein transport GO:0015031 9.65 ARF3 RAB11B RAB1A RAB1B RAB35
6 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.54 ARF3 RAB1A RAB1B
7 COPII vesicle coating GO:0048208 9.52 RAB1A RAB1B
8 autophagosome assembly GO:0000045 9.5 RAB1A RAB1B RAB35
9 melanosome transport GO:0032402 9.46 RAB11B RAB1A
10 virion assembly GO:0019068 9.43 RAB1A RAB1B
11 positive regulation of glycoprotein metabolic process GO:1903020 9.16 RAB1A RAB1B
12 establishment of endothelial intestinal barrier GO:0090557 9.13 RAB1A RAB1B RAP2B
13 Rab protein signal transduction GO:0032482 8.92 RAB11B RAB1A RAB1B RAB35

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.43 ARF3 RAB1A RAB1B
2 GTP binding GO:0005525 9.43 ARF3 RAB11B RAB1A RAB1B RAB35 RAP2B
3 GDP binding GO:0019003 9.33 RAB11B RAB35 RAP2B
4 GTPase activity GO:0003924 9.1 ARF3 RAB11B RAB1A RAB1B RAB35 RAP2B

Sources for Hypotrichosis 3

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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