MCID: CHN067
MIFTS: 17

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 58
Chondrodysplasia Punctata, Tibial-Metacarpal Type 60
Chondrodysplasia Punctata, Mt Type 58

Characteristics:

Orphanet epidemiological data:

60
chondrodysplasia punctata, tibial-metacarpal type
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
chondrodysplasia punctata, tibia-metacarpal type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 118651
ICD10 via Orphanet 35 Q77.3
UMLS via Orphanet 75 C0432224
Orphanet 60 ORPHA79346
MedGen 43 C0432224
SNOMED-CT via HPO 70 263681008 360507004 74370006

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 short 4th metacarpal and malar flattening

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 10.8

Symptoms & Phenotypes for Chondrodysplasia Punctata, Tibia-Metacarpal Type

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 short 4th metacarpal 33 occasional (7.5%) HP:0010044
2 malar flattening 33 HP:0000272
3 micromelia 33 HP:0002983
4 epiphyseal stippling 33 HP:0010655
5 depressed nasal ridge 33 HP:0000457
6 midface retrusion 33 HP:0011800
7 short tibia 33 HP:0005736
8 coronal cleft vertebrae 33 HP:0003417
9 short 2nd metacarpal 33 HP:0010038
10 short 3rd metacarpal 33 HP:0010041
11 calcific stippling 33 HP:0002832

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
flat midface

Skeletal Limbs:
short tibiae
patella dislocation

Skeletal Spine:
coronal clefts of vertebral bodies

Head And Neck Nose:
flat nose

Skeletal:
discrete calcific stippling

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

Clinical features from OMIM:

118651

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:

42
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 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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