MCID: CHN067
MIFTS: 19

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 56
Chondrodysplasia Punctata, Tibial-Metacarpal Type 58
Chondrodysplasia Punctata, Mt Type 56

Characteristics:

Orphanet epidemiological data:

58
chondrodysplasia punctata, tibial-metacarpal type
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
chondrodysplasia punctata, tibia-metacarpal type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 118651
ICD10 via Orphanet 33 Q77.3
UMLS via Orphanet 72 C0432224
Orphanet 58 ORPHA79346
MedGen 41 C0432224
SNOMED-CT via HPO 68 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 and otitis media. 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

More information 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
2 otitis media 10.4
3 thanatophoric dysplasia, type i 10.4
4 x-linked chondrodysplasia punctata 1 10.4
5 rhizomelic chondrodysplasia punctata 10.4
6 spinal stenosis 10.4
7 mesomelia 10.4

Graphical network of the top 20 diseases related to Chondrodysplasia Punctata, Tibia-Metacarpal Type:



Diseases related to Chondrodysplasia Punctata, Tibia-Metacarpal Type

Symptoms & Phenotypes for Chondrodysplasia Punctata, Tibia-Metacarpal Type

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 short 4th metacarpal 31 occasional (7.5%) HP:0010044
2 malar flattening 31 HP:0000272
3 midface retrusion 31 HP:0011800
4 micromelia 31 HP:0002983
5 epiphyseal stippling 31 HP:0010655
6 depressed nasal ridge 31 HP:0000457
7 short tibia 31 HP:0005736
8 coronal cleft vertebrae 31 HP:0003417
9 short 2nd metacarpal 31 HP:0010038
10 short 3rd metacarpal 31 HP:0010041
11 calcific stippling 31 HP:0002832

Symptoms via clinical synopsis from OMIM:

56
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:

40
Bone

Publications for Chondrodysplasia Punctata, Tibia-Metacarpal Type

Articles related to Chondrodysplasia Punctata, Tibia-Metacarpal Type:

(show all 16)
# Title Authors PMID Year
1
Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling. 61 56
25602717 2015
2
Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. 61 56
14699613 2004
3
Chondrodysplasia punctata in siblings and maternal lupus erythematosus. 56
15521983 2004
4
Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? 56
9719382 1998
5
Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. 56
9719383 1998
6
Chondrodysplasia punctata and maternal systemic lupus erythematosus. 56
9719384 1998
7
Chondrodysplasia punctata, tibia-metacarpal (MT) type. 56
2248286 1990
8
Mesomelic dysplasia with punctate epiphyseal calcifications--a new entity of chondrodysplasia punctata? 56
7075629 1982
9
Mesomelic dysplasia with short ulna, long fibula, brachymetacarpy, and micrognathia. Clinical and radiological differential diagnostic features. 56
7393671 1980
10
CHONDRANGIOPATHIA CALCAREA OR PUNCTATA. 56
14070305 1963
11
Chondroangiopathia calcarea seu punctata; review and case report. 56
14883336 1951
12
Progressive joint limitations as the first alarming signs in a boy with short - limbed dwarfism: A case report. 61
18713450 2008
13
Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction. 61
17805524 2007
14
Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. 61
11026586 2000
15
Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type. 61
8978012 1996
16
Case report: a newborn case of chondrodysplasia punctata, tibia-metacarpal type. 61
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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....