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ACRPS
MCID: ACR019
MIFTS: 21
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Acropectoral Syndrome (ACRPS)
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Acropectoral Syndrome:
Characteristics:Orphanet epidemiological data:60
acropectoral syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype f syndrome has many overlapping features two families reported (last curated september 2012) HPO:33
acropectoral syndrome:
Onset and clinical course phenotypic variability Inheritance autosomal dominant inheritance Classifications:
ICD10:
35
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NIH Rare Diseases
:
54
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85203Disease definitionAcro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominanttrait and the causative gene is located at 7q36.Visit the Orphanet disease page for more resources.
MalaCards based summary : Acropectoral Syndrome, is also known as acrp syndrome. An important gene associated with Acropectoral Syndrome is ACRPS (Acropectoral Syndrome). Affiliated tissues include bone, and related phenotypes are finger syndactyly and abnormality of the thorax Wikipedia : 77 Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet,... more...
Description from OMIM:
605967
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Human phenotypes related to Acropectoral Syndrome:60 33 (show all 9)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:605967 |
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MalaCards organs/tissues related to Acropectoral Syndrome:42
Bone
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Genes related to Acropectoral Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Acropectoral Syndrome.
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