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Diseases

Pitt Syndrome

pitt syndrome

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Pitt Syndrome
Standard Disease Name
pitt syndrome
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
D054877
OMIM ID
194190
UMLS ID
C0796117
HPO ID
No data

Description and Extensions

Description
MSH2017_2016_08_12:A syndrome that is considered as part of the spectrum of Wolf-Hirschhorn Syndrome variability. It maps to the short arm of chromosome 4, at 4p16.|JABL99:Short stature, characteristic facies, microcephaly, telecanthus, prominent eyes, abnormal slanting of the palpebral fissures, hypoplastic maxilla, short philtrum, large mouth, and severe mental retardation.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
01
FGFR3
fibroblast growth factor receptor 3
fibroblast growth factor receptor 3
02
LETM1
leucine zipper and EF-hand containing transmembrane protein 1
leucine zipper and EF-hand containing transmembrane protein 1
05
NELFA
negative elongation factor complex member A
negative elongation factor complex member A
06
NSD2
nuclear receptor binding SET domain protein 2
nuclear receptor binding SET domain protein 2