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 57
Oligodactyly Tetramelic Postaxial 53
Postaxial Tetramelic Oligodactyly 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
postaxial oligodactyly, tetramelic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 176240
ICD10 via Orphanet 34 Q73.8
UMLS via Orphanet 73 C1867924
Orphanet 59 ORPHA2730
MedGen 42 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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
2 abnormality of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001167
3 oligodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0012165
4 ectrodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100257
5 cone-shaped epiphysis 32 HP:0010579
6 postaxial hand polydactyly 32 HP:0001162
7 postaxial foot polydactyly 32 HP:0001830
8 single transverse palmar crease 32 HP:0000954
9 radial bowing 32 HP:0002986
10 postaxial oligodactyly 32 HP:0006210
11 lunate-triquetral fusion 32 HP:0004251
12 partial-complete absence of 5th phalanges 32 HP:0006209
13 absent fifth metatarsal 32 HP:0008079
14 aplasia of the 5th metacarpal 32 HP:0010046

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone

Publications for Postaxial Oligodactyly, Tetramelic

Articles related to Postaxial Oligodactyly, Tetramelic:

# Title Authors PMID Year
1
Autosomal dominant tetramelic postaxial oligodactyly. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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