Wolf-Hirschhorn syndrome

Summary
Synonym
  • 4p deletion syndrome
  • PITT SYNDROME
  • Pitt-Rogers-Danks Syndrome
  • chromosome 4p16.3 deletion syndrome
Definition
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
Super Class
chromosomal deletion syndrome
External Links
Disease Ontology
DOID:0050460
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9173 IL1RL1 interleukin 1 receptor like 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q01638 Interleukin-1 receptor-like 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 85 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000077 Abnormality of the kidney
HP:0000078 Abnormality of the genital system
HP:0000079 Abnormality of the urinary system
HP:0000153 Abnormality of the mouth
HP:0000159 Abnormal lip morphology
HP:0000175 Cleft palate
HP:0000204 Cleft upper lip
HP:0000252 Microcephaly
Displaying 1 entry
Gene ID Gene Symbol Description
54872 PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024