ACRPV
MCID: ACR020
MIFTS: 22

Acropectorovertebral Dysplasia (ACRPV)

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

Aliases & Classifications for Acropectorovertebral Dysplasia

MalaCards integrated aliases for Acropectorovertebral Dysplasia:

Name: Acropectorovertebral Dysplasia 57 59 13
F Syndrome 57 59
Acropectorovertebral Dysplasia, F-Form 73
Acrpv 57

Characteristics:

Orphanet epidemiological data:

59
acropectorovertebral dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acropectorovertebral dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acropectorovertebral Dysplasia

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)

MalaCards based summary : Acropectorovertebral Dysplasia, also known as f syndrome, is related to acropectorovertebral dysplasia f form. An important gene associated with Acropectorovertebral Dysplasia is ACRPV (Acropectorovertebral Dysplasia (F Syndrome)). Affiliated tissues include bone, and related phenotypes are cleft palate and pectus excavatum

Related Diseases for Acropectorovertebral Dysplasia

Diseases in the Acropectorovertebral Dysplasia family:

Acropectorovertebral Dysplasia F Form

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

# Related Disease Score Top Affiliating Genes
1 acropectorovertebral dysplasia f form 12.1

Symptoms & Phenotypes for Acropectorovertebral Dysplasia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acropectorovertebral Dysplasia:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
2 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
3 triphalangeal thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0001199
4 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
5 spina bifida 59 32 frequent (33%) Frequent (79-30%) HP:0002414
6 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
7 synostosis of carpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0005048
8 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
9 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
10 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
11 broad thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0011304
12 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
13 abnormality of the thorax 32 HP:0000765
14 capitate-hamate fusion 32 HP:0001241
15 toe syndactyly 32 HP:0001770
16 skeletal dysplasia 32 HP:0002652
17 abnormal vertebral morphology 32 HP:0003468
18 spina bifida occulta at l5 32 HP:0004601
19 spina bifida occulta at s1 32 HP:0004614
20 radial deviation of the 2nd finger 32 HP:0009467
21 bifid distal phalanx of the thumb 32 HP:0009611
22 short thumb 32 HP:0009778

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:

41
Bone

Publications for Acropectorovertebral Dysplasia

Articles related to Acropectorovertebral Dysplasia:

# Title Authors Year
1
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. ( 14985386 )
2004
2
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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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