ACRPV
MCID: ACR046
MIFTS: 13

Acropectorovertebral Dysplasia F Form (ACRPV)

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 53
Acropectorovertebral Dysplasia, F-Form 72
Acropectorovertebral Dysplasia 53
F Syndrome 53
Acrpv 53

Classifications:



External Ids:

UMLS 72 C1863307

Summaries for Acropectorovertebral Dysplasia F Form

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 957DefinitionA rare 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 dominant trait 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 pectus excavatum. Affiliated tissues include bone.

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 11.7
2 pectus excavatum 9.5
3 polydactyly 9.5
4 ectodermal dysplasia 9.5
5 acute kidney failure 9.5
6 acute liver failure 9.5

Graphical network of the top 20 diseases related to Acropectorovertebral Dysplasia F Form:



Diseases related to Acropectorovertebral Dysplasia F Form

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:

41
Bone

Publications for Acropectorovertebral Dysplasia F Form

Articles related to Acropectorovertebral Dysplasia F Form:

# Title Authors PMID Year
1
[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family]. 38
17668405 2007
2
Behavioral management of a long-term survivor with tetrasomy 18p. 38
16411237 2006
3
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. 38
14985386 2004
4
A novel acropectoral syndrome maps to chromosome 7q36. 38
11333865 2001
5
[F-syndrome]. 38
11462618 2001
6
Conceptual changes in cancer chemotherapy: from an oral fluoropyrimidine prodrug, UFT, to a novel oral fluoropyrimidine prodrug, S-1, and low-dose FP therapy in Japan. 38
11081568 2000
7
Liposomal doxorubicin: antitumor activity and unique toxicities during two complementary phase I studies. 38
7602367 1995
8
F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family. 38
7677153 1995
9
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. 38
2424425 1986
10
[Association of ectodermal dysplasia, cleft of the lip palate and "scrubbing-brush hair". Its situation in "D. E. F. syndromes" (ectodermal dysplasia, cleft of the lip and/or palate (author's transl)]. 38
533106 1979

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
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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