CDP-GPAPP
MCID: CHN045
MIFTS: 27

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 57 20 58 72 36 29 6 70
Gpapp Deficiency 57 12 20 58 72
Chondrodysplasia, with Joint Dislocations, Gpapp Type 39
Chondrodysplasia with Joint Dislocations Gpapp Type 12
Cdp-Gpapp 72

Characteristics:

Orphanet epidemiological data:

58
chondrodysplasia with joint dislocations, gpapp type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
chondrodysplasia with joint dislocations, gpapp type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Chondrodysplasia with Joint Dislocations, Gpapp Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280586 Definition Chondrodysplasia 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.

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 BPNT2 (3'(2'), 5'-Bisphosphate Nucleotidase 2), and among its related pathways/superpathways are Inositol phosphate metabolism and Sulfur metabolism. Related phenotypes are hearing impairment and wide nasal bridge

Disease Ontology : 12 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 IMPAD1 on chromosome 8q12.

KEGG : 36 Chondrodysplasia with joint dislocations, GPAPP type is characterized by short stature, chondrodysplasia with brachydactyly, congenital joint dislocations, cleft palate, and facial dysmorphism. It is caused by mutations in IMPAD1, the gene encoding Golgi-resident PAP phosphatase (gPAPP). IMPAD1 inactivation has been shown to produce chondrodysplasia with abnormal joint formation and impaired proteoglycan sulfation.

UniProtKB/Swiss-Prot : 72 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.

More information 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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 wide nasal bridge 31 HP:0000431
3 short nose 31 HP:0003196
4 short stature 31 HP:0004322
5 genu valgum 31 HP:0002857
6 cleft palate 31 HP:0000175
7 flat face 31 HP:0012368
8 micrognathia 31 HP:0000347
9 short toe 31 HP:0001831
10 narrow mouth 31 HP:0000160
11 brachydactyly 31 HP:0001156
12 patellar dislocation 31 HP:0002999
13 proptosis 31 HP:0000520
14 high forehead 31 HP:0000348
15 short metacarpal 31 HP:0010049
16 short foot 31 HP:0001773
17 coronal craniosynostosis 31 HP:0004440

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Head And Neck Mouth:
micrognathia
small mouth
posterior cleft palate

Skeletal Limbs:
patellar dislocation
genua valga
subluxation of the radial heads
shortening and deformity of the limbs
limited supination of the elbow
more
Skeletal Skull:
coronal craniosynostosis

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 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 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 (Updated 20-May-2021)

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 BPNT2

Anatomical Context for Chondrodysplasia with Joint Dislocations, Gpapp Type

Publications for Chondrodysplasia with Joint Dislocations, Gpapp Type

Articles related to Chondrodysplasia with Joint Dislocations, Gpapp Type:

# Title Authors PMID Year
1
IMPAD1 mutations in two Catel-Manzke like patients. 61 57 6
22887726 2012
2
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. 57 6 61
21549340 2011
3
Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance. 6
21834032 2011

Variations for Chondrodysplasia with Joint Dislocations, Gpapp Type

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

6 (show top 50) (show all 163)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BPNT2 NM_017813.5(BPNT2):c.529G>A (p.Asp177Asn) SNV Pathogenic 31090 rs387907101 GRCh37: 8:57892615-57892615
GRCh38: 8:56980056-56980056
2 BPNT2 NM_017813.5(BPNT2):c.547A>C (p.Thr183Pro) SNV Pathogenic 31091 rs387907102 GRCh37: 8:57892597-57892597
GRCh38: 8:56980038-56980038
3 BPNT2 NM_017813.5(BPNT2):c.324del (p.Ser108fs) Deletion Pathogenic 162436 rs724160003 GRCh37: 8:57905821-57905821
GRCh38: 8:56993262-56993262
4 BPNT2 NM_017813.5(BPNT2):c.559C>T (p.Arg187Ter) SNV Pathogenic 31092 rs387907103 GRCh37: 8:57890696-57890696
GRCh38: 8:56978137-56978137
5 BPNT2 NM_017813.5(BPNT2):c.378dup (p.Ser127fs) Duplication Pathogenic 1033448 GRCh37: 8:57905766-57905767
GRCh38: 8:56993207-56993208
6 BPNT2 NM_017813.5(BPNT2):c.560G>A (p.Arg187Gln) SNV Uncertain significance 910384 GRCh37: 8:57890695-57890695
GRCh38: 8:56978136-56978136
7 BPNT2 NM_017813.5(BPNT2):c.-252G>C SNV Uncertain significance 363415 rs886063021 GRCh37: 8:57906396-57906396
GRCh38: 8:56993837-56993837
8 BPNT2 NM_017813.5(BPNT2):c.*3235A>C SNV Uncertain significance 363352 rs886063003 GRCh37: 8:57873117-57873117
GRCh38: 8:56960558-56960558
9 BPNT2 NM_017813.5(BPNT2):c.*5193A>G SNV Uncertain significance 363335 rs187645072 GRCh37: 8:57871159-57871159
GRCh38: 8:56958600-56958600
10 BPNT2 NM_017813.5(BPNT2):c.*1960A>G SNV Uncertain significance 363375 rs886063011 GRCh37: 8:57874392-57874392
GRCh38: 8:56961833-56961833
11 BPNT2 NM_017813.5(BPNT2):c.*2649C>A SNV Uncertain significance 363358 rs768963800 GRCh37: 8:57873703-57873703
GRCh38: 8:56961144-56961144
12 BPNT2 NM_017813.5(BPNT2):c.*14C>T SNV Uncertain significance 363401 rs886063018 GRCh37: 8:57876338-57876338
GRCh38: 8:56963779-56963779
13 BPNT2 NM_017813.5(BPNT2):c.*2993C>G SNV Uncertain significance 363355 rs886063005 GRCh37: 8:57873359-57873359
GRCh38: 8:56960800-56960800
14 BPNT2 NM_017813.5(BPNT2):c.*1338C>G SNV Uncertain significance 363381 rs543588217 GRCh37: 8:57875014-57875014
GRCh38: 8:56962455-56962455
15 BPNT2 NM_017813.5(BPNT2):c.652G>T (p.Ala218Ser) SNV Uncertain significance 363407 rs376366002 GRCh37: 8:57878906-57878906
GRCh38: 8:56966347-56966347
16 BPNT2 NM_017813.5(BPNT2):c.*4496C>T SNV Uncertain significance 363341 rs561898077 GRCh37: 8:57871856-57871856
GRCh38: 8:56959297-56959297
17 BPNT2 NM_017813.5(BPNT2):c.*1123C>A SNV Uncertain significance 363387 rs369301033 GRCh37: 8:57875229-57875229
GRCh38: 8:56962670-56962670
18 BPNT2 NM_017813.5(BPNT2):c.*5804G>A SNV Uncertain significance 363321 rs886062999 GRCh37: 8:57870548-57870548
GRCh38: 8:56957989-56957989
19 BPNT2 NM_017813.5(BPNT2):c.-155C>G SNV Uncertain significance 363413 rs548420336 GRCh37: 8:57906299-57906299
GRCh38: 8:56993740-56993740
20 BPNT2 NM_017813.5(BPNT2):c.*3653C>A SNV Uncertain significance 363350 rs139386127 GRCh37: 8:57872699-57872699
GRCh38: 8:56960140-56960140
21 BPNT2 NM_017813.5(BPNT2):c.*5300G>T SNV Uncertain significance 363333 rs540499421 GRCh37: 8:57871052-57871052
GRCh38: 8:56958493-56958493
22 BPNT2 NM_017813.5(BPNT2):c.*2138A>G SNV Uncertain significance 363373 rs376088755 GRCh37: 8:57874214-57874214
GRCh38: 8:56961655-56961655
23 BPNT2 NM_017813.5(BPNT2):c.*2165C>T SNV Uncertain significance 363370 rs886063009 GRCh37: 8:57874187-57874187
GRCh38: 8:56961628-56961628
24 BPNT2 NM_017813.5(BPNT2):c.-274G>C SNV Uncertain significance 363416 rs534138309 GRCh37: 8:57906418-57906418
GRCh38: 8:56993859-56993859
25 BPNT2 NM_017813.5(BPNT2):c.*1314G>A SNV Uncertain significance 363382 rs749994859 GRCh37: 8:57875038-57875038
GRCh38: 8:56962479-56962479
26 BPNT2 NM_017813.5(BPNT2):c.*396A>T SNV Uncertain significance 363396 rs760278407 GRCh37: 8:57875956-57875956
GRCh38: 8:56963397-56963397
27 BPNT2 NM_017813.5(BPNT2):c.*1620A>G SNV Uncertain significance 363379 rs886063013 GRCh37: 8:57874732-57874732
GRCh38: 8:56962173-56962173
28 BPNT2 NM_017813.5(BPNT2):c.*2458G>T SNV Uncertain significance 363362 rs886063007 GRCh37: 8:57873894-57873894
GRCh38: 8:56961335-56961335
29 BPNT2 NM_017813.5(BPNT2):c.*1834A>G SNV Uncertain significance 363376 rs886063012 GRCh37: 8:57874518-57874518
GRCh38: 8:56961959-56961959
30 BPNT2 NM_017813.5(BPNT2):c.*5395A>G SNV Uncertain significance 363330 rs561796338 GRCh37: 8:57870957-57870957
GRCh38: 8:56958398-56958398
31 BPNT2 NM_017813.5(BPNT2):c.*2825C>T SNV Uncertain significance 363356 rs772899410 GRCh37: 8:57873527-57873527
GRCh38: 8:56960968-56960968
32 BPNT2 NM_017813.5(BPNT2):c.988G>A (p.Gly330Ser) SNV Uncertain significance 363402 rs138502852 GRCh37: 8:57876444-57876444
GRCh38: 8:56963885-56963885
33 BPNT2 NM_017813.5(BPNT2):c.*3739C>T SNV Uncertain significance 363348 rs764103475 GRCh37: 8:57872613-57872613
GRCh38: 8:56960054-56960054
34 BPNT2 NM_017813.5(BPNT2):c.355T>C (p.Tyr119His) SNV Uncertain significance 363408 rs886063020 GRCh37: 8:57905790-57905790
GRCh38: 8:56993231-56993231
35 BPNT2 NM_017813.5(BPNT2):c.*1084C>T SNV Uncertain significance 363388 rs886063015 GRCh37: 8:57875268-57875268
GRCh38: 8:56962709-56962709
36 BPNT2 NM_017813.5(BPNT2):c.*5752G>A SNV Uncertain significance 363322 rs886063000 GRCh37: 8:57870600-57870600
GRCh38: 8:56958041-56958041
37 BPNT2 NM_017813.5(BPNT2):c.*3258T>G SNV Uncertain significance 363351 rs139817494 GRCh37: 8:57873094-57873094
GRCh38: 8:56960535-56960535
38 BPNT2 NM_017813.5(BPNT2):c.*5203A>T SNV Uncertain significance 363334 rs886063001 GRCh37: 8:57871149-57871149
GRCh38: 8:56958590-56958590
39 BPNT2 NM_017813.5(BPNT2):c.*5327C>G SNV Uncertain significance 363331 rs200958042 GRCh37: 8:57871025-57871025
GRCh38: 8:56958466-56958466
40 BPNT2 NM_017813.5(BPNT2):c.-279T>C SNV Uncertain significance 363417 rs886063022 GRCh37: 8:57906423-57906423
GRCh38: 8:56993864-56993864
41 BPNT2 NM_017813.5(BPNT2):c.*3193T>C SNV Uncertain significance 363354 rs886063004 GRCh37: 8:57873159-57873159
GRCh38: 8:56960600-56960600
42 BPNT2 NM_017813.5(BPNT2):c.*1343A>G SNV Uncertain significance 363380 rs879131458 GRCh37: 8:57875009-57875009
GRCh38: 8:56962450-56962450
43 BPNT2 NM_017813.5(BPNT2):c.*2444A>G SNV Uncertain significance 363363 rs571215531 GRCh37: 8:57873908-57873908
GRCh38: 8:56961349-56961349
44 BPNT2 NM_017813.5(BPNT2):c.*2607C>T SNV Uncertain significance 363360 rs535290326 GRCh37: 8:57873745-57873745
GRCh38: 8:56961186-56961186
45 BPNT2 NM_017813.5(BPNT2):c.687C>T (p.Arg229=) SNV Uncertain significance 363406 rs886063019 GRCh37: 8:57878871-57878871
GRCh38: 8:56966312-56966312
46 BPNT2 NM_017813.5(BPNT2):c.*4264G>A SNV Uncertain significance 363343 rs557759212 GRCh37: 8:57872088-57872088
GRCh38: 8:56959529-56959529
47 BPNT2 NM_017813.5(BPNT2):c.*2726T>G SNV Uncertain significance 363357 rs886063006 GRCh37: 8:57873626-57873626
GRCh38: 8:56961067-56961067
48 BPNT2 NM_017813.5(BPNT2):c.*4845A>G SNV Uncertain significance 363340 rs184184001 GRCh37: 8:57871507-57871507
GRCh38: 8:56958948-56958948
49 BPNT2 NM_017813.5(BPNT2):c.*5821C>T SNV Uncertain significance 363320 rs886062998 GRCh37: 8:57870531-57870531
GRCh38: 8:56957972-56957972
50 BPNT2 NM_017813.5(BPNT2):c.*70G>T SNV Uncertain significance 363400 rs371111058 GRCh37: 8:57876282-57876282
GRCh38: 8:56963723-56963723

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

72
# Symbol AA change Variation ID SNP ID
1 BPNT2 p.Asp177Asn VAR_065847 rs387907101
2 BPNT2 p.Thr183Pro VAR_065848 rs387907102

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:

36
# 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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