MCID: ACR046
MIFTS: 13

Acropectorovertebral Dysplasia F Form

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Acropectorovertebral Dysplasia F Form

MalaCards integrated aliases for Acropectorovertebral Dysplasia F Form:

Name: Acropectorovertebral Dysplasia F Form 54
Acropectorovertebral Dysplasia, F-Form 74
Acropectorovertebral Dysplasia 54
F Syndrome 54
Acrpv 54

Classifications:



External Ids:

UMLS 74 C1863307

Summaries for Acropectorovertebral Dysplasia F Form

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 957Disease definitionAcropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).EpidemiologyIt has been described in less than 30 patients from three unrelated families.Clinical descriptionOther manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit.EtiologyThe causative gene has been mapped to chromosome region 2q36.Genetic counselingThis syndrome is transmitted as an autosomal dominanttrait with full penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Acropectorovertebral Dysplasia F Form, also known as acropectorovertebral dysplasia, f-form, is related to acropectorovertebral dysplasia and acute liver failure. Affiliated tissues include bone and liver.

Related Diseases for Acropectorovertebral Dysplasia F Form

Diseases in the Acropectorovertebral Dysplasia family:

Acropectorovertebral Dysplasia F Form

Diseases related to Acropectorovertebral Dysplasia F Form via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acropectorovertebral dysplasia 11.5
2 acute liver failure 9.5

Symptoms & Phenotypes for Acropectorovertebral Dysplasia F Form

Drugs & Therapeutics for Acropectorovertebral Dysplasia F Form

Search Clinical Trials , NIH Clinical Center for Acropectorovertebral Dysplasia F Form

Genetic Tests for Acropectorovertebral Dysplasia F Form

Anatomical Context for Acropectorovertebral Dysplasia F Form

MalaCards organs/tissues related to Acropectorovertebral Dysplasia F Form:

42
Bone, Liver

Publications for Acropectorovertebral Dysplasia F Form

Articles related to Acropectorovertebral Dysplasia F Form:

# Title Authors Year
1
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. ( 14985386 )
2004
2
F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family. ( 7677153 )
1995
3
The proteinase inhibitor complexes (antithrombin III-thrombin, alpha 2antiplasmin-plasmin and alpha 1antitrypsin-elastase) in septicemia, fulminant hepatic failure and cardiac shock: value for diagnosis and therapy control in DIC/F syndrome. ( 2424425 )
1986

Variations for Acropectorovertebral Dysplasia F Form

Expression for Acropectorovertebral Dysplasia F Form

Search GEO for disease gene expression data for Acropectorovertebral Dysplasia F Form.

Pathways for Acropectorovertebral Dysplasia F Form

GO Terms for Acropectorovertebral Dysplasia F Form

Sources for Acropectorovertebral Dysplasia F Form

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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