MCID: PST104
MIFTS: 13

Postaxial Oligodactyly, Tetramelic

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Postaxial Oligodactyly, Tetramelic

MalaCards integrated aliases for Postaxial Oligodactyly, Tetramelic:

Name: Postaxial Oligodactyly, Tetramelic 56
Oligodactyly Tetramelic Postaxial 52
Postaxial Tetramelic Oligodactyly 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
postaxial oligodactyly, tetramelic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 176240
ICD10 via Orphanet 33 Q73.8
UMLS via Orphanet 72 C1867924
Orphanet 58 ORPHA2730
MedGen 41 C1867924

Summaries for Postaxial Oligodactyly, Tetramelic

MalaCards based summary : Postaxial Oligodactyly, Tetramelic, is also known as oligodactyly tetramelic postaxial. Affiliated tissues include bone, and related phenotypes are abnormality of the metacarpal bones and abnormality of finger

More information from OMIM: 176240

Related Diseases for Postaxial Oligodactyly, Tetramelic

Symptoms & Phenotypes for Postaxial Oligodactyly, Tetramelic

Human phenotypes related to Postaxial Oligodactyly, Tetramelic:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
2 abnormality of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001167
3 oligodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0012165
4 ectrodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100257
5 cone-shaped epiphysis 31 HP:0010579
6 postaxial hand polydactyly 31 HP:0001162
7 postaxial foot polydactyly 31 HP:0001830
8 single transverse palmar crease 31 HP:0000954
9 radial bowing 31 HP:0002986
10 postaxial oligodactyly 31 HP:0006210
11 lunate-triquetral fusion 31 HP:0004251
12 partial-complete absence of 5th phalanges 31 HP:0006209
13 absent fifth metatarsal 31 HP:0008079
14 aplasia of the 5th metacarpal 31 HP:0010046

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
postaxial polydactyly
absent 5th phalanges
absent 5th metatarsals
normal tarsal bones
cone-shaped epiphyses (2nd-4th)

Skeletal Limbs:
mild radial bowing
normal ulnae

Skeletal Hands:
postaxial oligodactyly
lunate-triquetral fusion
partial-complete absence of 5th phalanges
single transverse palmar creases
absent 5th metacarpal

Clinical features from OMIM:

176240

Drugs & Therapeutics for Postaxial Oligodactyly, Tetramelic

Search Clinical Trials , NIH Clinical Center for Postaxial Oligodactyly, Tetramelic

Genetic Tests for Postaxial Oligodactyly, Tetramelic

Anatomical Context for Postaxial Oligodactyly, Tetramelic

MalaCards organs/tissues related to Postaxial Oligodactyly, Tetramelic:

40
Bone

Publications for Postaxial Oligodactyly, Tetramelic

Articles related to Postaxial Oligodactyly, Tetramelic:

# Title Authors PMID Year
1
Autosomal dominant tetramelic postaxial oligodactyly. 56
8100684 1993

Variations for Postaxial Oligodactyly, Tetramelic

Expression for Postaxial Oligodactyly, Tetramelic

Search GEO for disease gene expression data for Postaxial Oligodactyly, Tetramelic.

Pathways for Postaxial Oligodactyly, Tetramelic

GO Terms for Postaxial Oligodactyly, Tetramelic

Sources for Postaxial Oligodactyly, Tetramelic

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
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