GKAF
MCID: GRW045
MIFTS: 8

Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies (GKAF)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

MalaCards integrated aliases for Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies:

Name: Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies 57
Growth Restriction, Hypoplastic Kidneys, Alpecia, and Distinctive Facies 57
Gkaf 57

Classifications:



External Ids:

OMIM® 57 619321

Summaries for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

OMIM® : 57 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018). (619321) (Updated 20-May-2021)

MalaCards based summary : Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies, is also known as growth restriction, hypoplastic kidneys, alpecia, and distinctive facies. An important gene associated with Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies is ZPR1 (ZPR1 Zinc Finger).

Related Diseases for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Symptoms & Phenotypes for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Clinical features from OMIM®:

619321 (Updated 20-May-2021)

Drugs & Therapeutics for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Search Clinical Trials , NIH Clinical Center for Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies

Genetic Tests for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Anatomical Context for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Publications for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Articles related to Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies:

# Title Authors PMID Year
1
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. 57
29851065 2018

Variations for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Expression for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Search GEO for disease gene expression data for Growth Restriction, Hypoplastic Kidneys, Alopecia, and Distinctive Facies.

Pathways for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

GO Terms for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

Sources for Growth Restriction, Hypoplastic Kidneys, Alopecia, and...

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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