MCID: CHN067
MIFTS: 18

Chondrodysplasia Punctata, Tibia-Metacarpal Type

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Chondrodysplasia Punctata, Tibia-Metacarpal Type

MalaCards integrated aliases for Chondrodysplasia Punctata, Tibia-Metacarpal Type:

Name: Chondrodysplasia Punctata, Tibia-Metacarpal Type 57
Chondrodysplasia Punctata, Tibial-Metacarpal Type 59
Chondrodysplasia Punctata, Mt Type 57

Characteristics:

Orphanet epidemiological data:

59
chondrodysplasia punctata, tibial-metacarpal type
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
chondrodysplasia punctata, tibia-metacarpal type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 118651
Orphanet 59 ORPHA79346
UMLS via Orphanet 74 C0432224
ICD10 via Orphanet 34 Q77.3
MedGen 42 C0432224
SNOMED-CT via HPO 69 263681008 74370006 360507004

Summaries for Chondrodysplasia Punctata, Tibia-Metacarpal Type

MalaCards based summary : Chondrodysplasia Punctata, Tibia-Metacarpal Type, also known as chondrodysplasia punctata, tibial-metacarpal type, is related to chondrodysplasia punctata syndrome. An important gene associated with Chondrodysplasia Punctata, Tibia-Metacarpal Type is ARSD (Arylsulfatase D). Affiliated tissues include bone, and related phenotypes are malar flattening and depressed nasal ridge

Description from OMIM: 118651

Related Diseases for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Diseases related to Chondrodysplasia Punctata, Tibia-Metacarpal Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chondrodysplasia punctata syndrome 10.6

Symptoms & Phenotypes for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
flat midface

Skeletal:
discrete calcific stippling

Skeletal Limbs:
patella dislocation
short tibiae

Head And Neck Nose:
flat nose

Skeletal Spine:
coronal clefts of vertebral bodies

Skeletal Hands:
short second and third or third and fourth metacarpals


Clinical features from OMIM:

118651

Human phenotypes related to Chondrodysplasia Punctata, Tibia-Metacarpal Type:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 depressed nasal ridge 32 HP:0000457
3 calcific stippling 32 HP:0002832
4 micromelia 32 HP:0002983
5 coronal cleft vertebrae 32 HP:0003417
6 short tibia 32 HP:0005736
7 short 2nd metacarpal 32 HP:0010038
8 short 3rd metacarpal 32 HP:0010041
9 short 4th metacarpal 32 occasional (7.5%) HP:0010044
10 epiphyseal stippling 32 HP:0010655
11 midface retrusion 32 HP:0011800

Drugs & Therapeutics for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Genetic Tests for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Anatomical Context for Chondrodysplasia Punctata, Tibia-Metacarpal Type

MalaCards organs/tissues related to Chondrodysplasia Punctata, Tibia-Metacarpal Type:

41
Bone

Publications for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Articles related to Chondrodysplasia Punctata, Tibia-Metacarpal Type:

# Title Authors Year
1
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. ( 25602717 )
2015
2
Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction. ( 17805524 )
2007
3
Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. ( 14699613 )
2004
4
Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. ( 11026586 )
2000
5
Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type. ( 8978012 )
1996
6
Case report: a newborn case of chondrodysplasia punctata, tibia-metacarpal type. ( 8298883 )
1994

Variations for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Expression for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Search GEO for disease gene expression data for Chondrodysplasia Punctata, Tibia-Metacarpal Type.

Pathways for Chondrodysplasia Punctata, Tibia-Metacarpal Type

GO Terms for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Sources for Chondrodysplasia Punctata, Tibia-Metacarpal Type

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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