MCID: CHN071
MIFTS: 17

Chondrodysplasia Punctata, Autosomal Dominant

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

Aliases & Classifications for Chondrodysplasia Punctata, Autosomal Dominant

MalaCards integrated aliases for Chondrodysplasia Punctata, Autosomal Dominant:

Name: Chondrodysplasia Punctata, Autosomal Dominant 57 73
Autosomal Dominant Chondrodysplasia Punctata 12 59
Chondrodysplasia Punctata, Sheffield Type 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant chondrodysplasia punctata
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
chondrodysplasia punctata, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 118650
Disease Ontology 12 DOID:0060293
ICD10 33 Q77.3
Orphanet 59 ORPHA79344
UMLS via Orphanet 74 C1442935
ICD10 via Orphanet 34 Q77.3
MedGen 42 C1442935
UMLS 73 C1442935

Summaries for Chondrodysplasia Punctata, Autosomal Dominant

MalaCards based summary : Chondrodysplasia Punctata, Autosomal Dominant, also known as autosomal dominant chondrodysplasia punctata, is related to chondrodysplasia punctata sheffield type. Affiliated tissues include bone, and related phenotypes are frontal bossing and scoliosis

Description from OMIM: 118650

Related Diseases for Chondrodysplasia Punctata, Autosomal Dominant

Diseases in the Chondrodysplasia Punctata Syndrome family:

Chondrodysplasia Punctata, Autosomal Dominant

Diseases related to Chondrodysplasia Punctata, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata sheffield type 12.5

Symptoms & Phenotypes for Chondrodysplasia Punctata, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Head:
frontal bossing

Hair:
coarse hair
sparse hair

Skin:
hyperkeratosis with erythema

Growth:
moderate growth deficiency

Joints:
flexion contractures of hips and knees

Misc:
relatively good prognosis

Spine:
scoliosis

Limbs:
talipes equinovarus
limb asymmetry

Eyes:
cataracts

Skel:
chondrodysplasia punctata

Facies:
koala bear facies
nasal bone hypoplasia

Radiology:
predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes


Clinical features from OMIM:

118650

Human phenotypes related to Chondrodysplasia Punctata, Autosomal Dominant:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 scoliosis 32 HP:0002650
3 cataract 32 HP:0000518
4 coarse hair 32 HP:0002208
5 epiphyseal stippling 32 HP:0010655
6 talipes equinovarus 32 HP:0001762
7 hip contracture 32 HP:0003273
8 sparse hair 32 HP:0008070
9 knee flexion contracture 32 HP:0006380
10 vitamin k deficiency 32 HP:0011892
11 moderate postnatal growth retardation 32 HP:0008855
12 hypoplasia of the nasal bone 32 HP:0004646
13 hyperkeratosis with erythema 32 HP:0007390

Drugs & Therapeutics for Chondrodysplasia Punctata, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata, Autosomal Dominant

Genetic Tests for Chondrodysplasia Punctata, Autosomal Dominant

Anatomical Context for Chondrodysplasia Punctata, Autosomal Dominant

MalaCards organs/tissues related to Chondrodysplasia Punctata, Autosomal Dominant:

41
Bone

Publications for Chondrodysplasia Punctata, Autosomal Dominant

Variations for Chondrodysplasia Punctata, Autosomal Dominant

Expression for Chondrodysplasia Punctata, Autosomal Dominant

Search GEO for disease gene expression data for Chondrodysplasia Punctata, Autosomal Dominant.

Pathways for Chondrodysplasia Punctata, Autosomal Dominant

GO Terms for Chondrodysplasia Punctata, Autosomal Dominant

Sources for Chondrodysplasia Punctata, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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