CDP-GPAPP
MCID: CHN045
MIFTS: 23

Chondrodysplasia with Joint Dislocations, Gpapp Type (CDP-GPAPP)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia with Joint Dislocations, Gpapp Type

MalaCards integrated aliases for Chondrodysplasia with Joint Dislocations, Gpapp Type:

Name: Chondrodysplasia with Joint Dislocations, Gpapp Type 58 54 60 76 38 30 6 74
Gpapp Deficiency 58 54 60 76
Chondrodysplasia, with Joint Dislocations, Gpapp Type 41
Cdp-Gpapp 76

Characteristics:

Orphanet epidemiological data:

60
chondrodysplasia with joint dislocations, gpapp type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
chondrodysplasia with joint dislocations, gpapp type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chondrodysplasia with Joint Dislocations, Gpapp Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 280586Disease definitionChondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Chondrodysplasia with Joint Dislocations, Gpapp Type, is also known as gpapp deficiency. An important gene associated with Chondrodysplasia with Joint Dislocations, Gpapp Type is IMPAD1 (Inositol Monophosphatase Domain Containing 1), and among its related pathways/superpathways are Inositol phosphate metabolism and Sulfur metabolism. Affiliated tissues include bone and eye, and related phenotypes are genu valgum and hearing impairment

UniProtKB/Swiss-Prot : 76 Chondrodysplasia with joint dislocations, GPAPP type: A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.

Description from OMIM: 614078

Related Diseases for Chondrodysplasia with Joint Dislocations, Gpapp Type

Symptoms & Phenotypes for Chondrodysplasia with Joint Dislocations, Gpapp Type

Human phenotypes related to Chondrodysplasia with Joint Dislocations, Gpapp Type:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 genu valgum 33 HP:0002857
2 hearing impairment 33 HP:0000365
3 wide nasal bridge 33 HP:0000431
4 short nose 33 HP:0003196
5 short stature 33 HP:0004322
6 cleft palate 33 HP:0000175
7 micrognathia 33 HP:0000347
8 short foot 33 HP:0001773
9 flat face 33 HP:0012368
10 short toe 33 HP:0001831
11 coronal craniosynostosis 33 HP:0004440
12 narrow mouth 33 HP:0000160
13 brachydactyly 33 HP:0001156
14 patellar dislocation 33 HP:0002999
15 high forehead 33 HP:0000348
16 proptosis 33 HP:0000520
17 short metacarpal 33 HP:0010049

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Head And Neck Face:
flat face

Skeletal Hands:
brachydactyly
short metacarpals
hitch-hiker appearance of the thumb
irregular size of the metacarpal epiphyses
supernumerary carpal ossification centers
more
Head And Neck Head:
high forehead

Head And Neck Nose:
small nose
broad nasal root

Head And Neck Eyes:
prominent eyes

Skeletal Spine:
reduction of the intervertebral spaces

Head And Neck Mouth:
micrognathia
small mouth
posterior cleft palate

Skeletal Skull:
coronal craniosynostosis

Skeletal Limbs:
patellar dislocation
genua valga
subluxation of the radial heads
shortening and deformity of the limbs
limited supination of the elbow
more
Head And Neck Ears:
hearing loss

Skeletal Feet:
short feet
short toes
adducted feet
lateral deviation of the fifth toe

Growth Other:
prenatal growth delay

Skeletal Pelvis:
dysplasia of the hip acetabulum

Clinical features from OMIM:

614078

Drugs & Therapeutics for Chondrodysplasia with Joint Dislocations, Gpapp Type

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia with Joint Dislocations, Gpapp Type

Genetic Tests for Chondrodysplasia with Joint Dislocations, Gpapp Type

Genetic tests related to Chondrodysplasia with Joint Dislocations, Gpapp Type:

# Genetic test Affiliating Genes
1 Chondrodysplasia with Joint Dislocations, Gpapp Type 30 IMPAD1

Anatomical Context for Chondrodysplasia with Joint Dislocations, Gpapp Type

MalaCards organs/tissues related to Chondrodysplasia with Joint Dislocations, Gpapp Type:

42
Bone, Eye

Publications for Chondrodysplasia with Joint Dislocations, Gpapp Type

Articles related to Chondrodysplasia with Joint Dislocations, Gpapp Type:

# Title Authors Year
1
IMPAD1 mutations in two Catel-Manzke like patients. ( 22887726 )
2012
2
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. ( 21834032 )
2011
3
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. ( 21549340 )
2011

Variations for Chondrodysplasia with Joint Dislocations, Gpapp Type

UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia with Joint Dislocations, Gpapp Type:

76
# Symbol AA change Variation ID SNP ID
1 IMPAD1 p.Asp177Asn VAR_065847 rs387907101
2 IMPAD1 p.Thr183Pro VAR_065848 rs387907102

ClinVar genetic disease variations for Chondrodysplasia with Joint Dislocations, Gpapp Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPAD1 NM_017813.4(IMPAD1): c.529G> A (p.Asp177Asn) single nucleotide variant Pathogenic rs387907101 GRCh37 Chromosome 8, 57892615: 57892615
2 IMPAD1 NM_017813.4(IMPAD1): c.529G> A (p.Asp177Asn) single nucleotide variant Pathogenic rs387907101 GRCh38 Chromosome 8, 56980056: 56980056
3 IMPAD1 NM_017813.4(IMPAD1): c.547A> C (p.Thr183Pro) single nucleotide variant Pathogenic rs387907102 GRCh37 Chromosome 8, 57892597: 57892597
4 IMPAD1 NM_017813.4(IMPAD1): c.547A> C (p.Thr183Pro) single nucleotide variant Pathogenic rs387907102 GRCh38 Chromosome 8, 56980038: 56980038
5 IMPAD1 NM_017813.4(IMPAD1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs387907103 GRCh37 Chromosome 8, 57890696: 57890696
6 IMPAD1 NM_017813.4(IMPAD1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs387907103 GRCh38 Chromosome 8, 56978137: 56978137
7 IMPAD1 NM_017813.4(IMPAD1): c.324delC (p.Ser108Argfs) deletion Pathogenic rs724160003 GRCh37 Chromosome 8, 57905821: 57905821
8 IMPAD1 NM_017813.4(IMPAD1): c.324delC (p.Ser108Argfs) deletion Pathogenic rs724160003 GRCh38 Chromosome 8, 56993262: 56993262

Expression for Chondrodysplasia with Joint Dislocations, Gpapp Type

Search GEO for disease gene expression data for Chondrodysplasia with Joint Dislocations, Gpapp Type.

Pathways for Chondrodysplasia with Joint Dislocations, Gpapp Type

Pathways related to Chondrodysplasia with Joint Dislocations, Gpapp Type according to KEGG:

38
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Sulfur metabolism hsa00920
3 Phosphatidylinositol signaling system hsa04070

GO Terms for Chondrodysplasia with Joint Dislocations, Gpapp Type

Sources for Chondrodysplasia with Joint Dislocations, Gpapp Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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