MCID: CHN045
MIFTS: 21

Chondrodysplasia with Joint Dislocations, Gpapp Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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 57 53 59 75 29 6 73
Gpapp Deficiency 57 53 59 75
Chondrodysplasia, with Joint Dislocations, Gpapp Type 40
Cdp-Gpapp 75

Characteristics:

Orphanet epidemiological data:

59
chondrodysplasia with joint dislocations, gpapp type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
chondrodysplasia with joint dislocations, gpapp type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chondrodysplasia with Joint Dislocations, Gpapp Type

UniProtKB/Swiss-Prot : 75 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.

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). Affiliated tissues include bone and eye, and related phenotypes are narrow mouth and micrognathia

Description from OMIM: 614078

Related Diseases for Chondrodysplasia with Joint Dislocations, Gpapp Type

Symptoms & Phenotypes for Chondrodysplasia with Joint Dislocations, Gpapp Type

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 narrow mouth 32 HP:0000160
2 micrognathia 32 HP:0000347
3 high forehead 32 HP:0000348
4 hearing impairment 32 HP:0000365
5 wide nasal bridge 32 HP:0000431
6 proptosis 32 HP:0000520
7 brachydactyly 32 HP:0001156
8 short foot 32 HP:0001773
9 short toe 32 HP:0001831
10 genu valgum 32 HP:0002857
11 patellar dislocation 32 HP:0002999
12 short nose 32 HP:0003196
13 short stature 32 HP:0004322
14 coronal craniosynostosis 32 HP:0004440
15 short metacarpal 32 HP:0010049
16 flat face 32 HP:0012368

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 29 IMPAD1

Anatomical Context for Chondrodysplasia with Joint Dislocations, Gpapp Type

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

41
Bone, Eye

Publications for Chondrodysplasia with Joint Dislocations, Gpapp Type

Variations for Chondrodysplasia with Joint Dislocations, Gpapp Type

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

75
# 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

GO Terms for Chondrodysplasia with Joint Dislocations, Gpapp Type

Sources for Chondrodysplasia with Joint Dislocations, Gpapp Type

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17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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