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chondrodysplasia with joint dislocations gPAPP type

Summary

Synonym

gPAPP deficiency

Definition

An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12.

Super Class

autosomal recessive disease osteochondrodysplasia

External Links

Disease Ontology

DOID:0112224

Mondo Disease Ontology

MONDO:0013561

ORDO

280586

OMIM

614078

GARD

11009

MGI genotype (from TogoID)

6466738

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
54928	BPNT2	3'(2'), 5'-bisphosphate nucleotidase 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
242291	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
312952	Bpnt2	3'(2'), 5'-bisphosphate nucleotidase 2	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 30 in total

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HPO ID	HPO Term
HP:0002857	Genu valgum
HP:0000520	Proptosis
HP:0004440	Coronal craniosynostosis
HP:0000347	Micrognathia
HP:0003048	Radial head subluxation
HP:0009826	Limb undergrowth
HP:0001377	Limited elbow extension
HP:0000160	Narrow mouth
HP:0002999	Patellar dislocation
HP:0005001	Recurrent patellar dislocation