ACRPV
MCID: ACR020
MIFTS: 24

Acropectorovertebral Dysplasia (ACRPV)

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

Aliases & Classifications for Acropectorovertebral Dysplasia

MalaCards integrated aliases for Acropectorovertebral Dysplasia:

Name: Acropectorovertebral Dysplasia 57 20 58 13
F Syndrome 57 20 58
Acrpv 57 20
Acropectorovertebral Dysplasia, F-Form 70
Acropectorovertebral Dysplasia F Form 20

Characteristics:

Orphanet epidemiological data:

58
acropectorovertebral dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
acropectorovertebral dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 102510
ICD10 via Orphanet 33 Q74.8
UMLS via Orphanet 71 C1863307
Orphanet 58 ORPHA957
MedGen 41 C1863307
UMLS 70 C1863307

Summaries for Acropectorovertebral Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 957 Definition A 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). Epidemiology It has been described in less than 30 patients from three unrelated families. Clinical description Other manifestations include prominence of the sternum with variable pectus excavatum, lumbosacral spina bifida occulta, minor craniofacial anomalies and mild intellectual deficit. Etiology The causative gene has been mapped to chromosome region 2q36. Genetic counseling This syndrome is transmitted as an autosomal dominant trait with full penetrance.

MalaCards based summary : Acropectorovertebral Dysplasia, also known as f syndrome, is related to pectus excavatum and polydactyly. An important gene associated with Acropectorovertebral Dysplasia is ACRPV (Acropectorovertebral Dysplasia (F Syndrome)). Affiliated tissues include kidney and liver, and related phenotypes are broad thumb and pectus excavatum

OMIM® : 57 Acropectorovertebral dysgenesis, or F syndrome, is an autosomal dominant skeletal dysplasia characterized by carpal and tarsal synostoses, syndactyly between the first and second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine (summary by Thiele et al., 2004). (102510) (Updated 20-May-2021)

Related Diseases for Acropectorovertebral Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 pectus excavatum 9.6
2 polydactyly 9.6
3 acute kidney failure 9.6
4 acute liver failure 9.6

Symptoms & Phenotypes for Acropectorovertebral Dysplasia

Human phenotypes related to Acropectorovertebral Dysplasia:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
2 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
3 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
4 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
5 synostosis of carpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0005048
6 triphalangeal thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001199
7 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
8 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
9 spina bifida 58 31 frequent (33%) Frequent (79-30%) HP:0002414
10 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
11 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
12 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
13 skeletal dysplasia 31 HP:0002652
14 abnormal vertebral morphology 31 HP:0003468
15 short thumb 31 HP:0009778
16 toe syndactyly 31 HP:0001770
17 capitate-hamate fusion 31 HP:0001241
18 radial deviation of the 2nd finger 31 HP:0009467
19 bifid distal phalanx of the thumb 31 HP:0009611
20 abnormal thorax morphology 31 HP:0000765
21 spina bifida occulta at l5 31 HP:0004601
22 spina bifida occulta at s1 31 HP:0004614

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skel:
skeletal dysplasia

Limbs:
malformed toes
abnormal segmentation of the first ray
broad, short thumbs
incipient distal thumb phalanx duplication
thumb and index finger syndactyly
more
Thorax:
sternal deformity
pectoral anomaly

Spine:
vertebral anomalies
spina bifida occulta at l5 or s1

Clinical features from OMIM®:

102510 (Updated 20-May-2021)

Drugs & Therapeutics for Acropectorovertebral Dysplasia

Search Clinical Trials , NIH Clinical Center for Acropectorovertebral Dysplasia

Genetic Tests for Acropectorovertebral Dysplasia

Anatomical Context for Acropectorovertebral Dysplasia

MalaCards organs/tissues related to Acropectorovertebral Dysplasia:

40
Kidney, Liver

Publications for Acropectorovertebral Dysplasia

Articles related to Acropectorovertebral Dysplasia:

# Title Authors PMID Year
1
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. 57 61
14985386 2004
2
F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family. 57 61
7677153 1995
3
[Pena-Shokeir syndrome type I, associated to Klippel-Feil syndrome type II in the same family]. 61
17668405 2007
4
Behavioral management of a long-term survivor with tetrasomy 18p. 61
16411237 2006
5
A novel acropectoral syndrome maps to chromosome 7q36. 61
11333865 2001
6
[F-syndrome]. 61
11462618 2001
7
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. 61
11081568 2000
8
Liposomal doxorubicin: antitumor activity and unique toxicities during two complementary phase I studies. 61
7602367 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. 61
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)]. 61
533106 1979

Variations for Acropectorovertebral Dysplasia

Expression for Acropectorovertebral Dysplasia

Search GEO for disease gene expression data for Acropectorovertebral Dysplasia.

Pathways for Acropectorovertebral Dysplasia

GO Terms for Acropectorovertebral Dysplasia

Sources for Acropectorovertebral Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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