ACRPV
MCID: ACR020
MIFTS: 23

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 58 60 13
F Syndrome 58 60
Acropectorovertebral Dysplasia, F-Form 74
Acrpv 58

Characteristics:

Orphanet epidemiological data:

60
acropectorovertebral dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
acropectorovertebral dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acropectorovertebral Dysplasia

OMIM : 58 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 and acute liver failure. An important gene associated with Acropectorovertebral Dysplasia is ACRPV (Acropectorovertebral Dysplasia (F Syndrome)). Affiliated tissues include bone and liver, and related phenotypes are pectus excavatum and finger syndactyly

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 12.3
2 acute liver failure 9.5

Symptoms & Phenotypes for Acropectorovertebral Dysplasia

Human phenotypes related to Acropectorovertebral Dysplasia:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
2 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
3 broad thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0011304
4 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
5 synostosis of carpal bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0005048
6 triphalangeal thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0001199
7 tarsal synostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008368
8 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
9 spina bifida 60 33 frequent (33%) Frequent (79-30%) HP:0002414
10 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
11 high, narrow palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002705
12 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
13 skeletal dysplasia 33 HP:0002652
14 abnormal vertebral morphology 33 HP:0003468
15 abnormality of the thorax 33 HP:0000765
16 toe syndactyly 33 HP:0001770
17 capitate-hamate fusion 33 HP:0001241
18 short thumb 33 HP:0009778
19 radial deviation of the 2nd finger 33 HP:0009467
20 bifid distal phalanx of the thumb 33 HP:0009611
21 spina bifida occulta at l5 33 HP:0004601
22 spina bifida occulta at s1 33 HP:0004614

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Bone, Liver

Publications for Acropectorovertebral Dysplasia

Articles related to Acropectorovertebral Dysplasia:

# 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
4
Friday, already? The T.G.I.F. syndrome--response to stress. ( 1185026 )
1975

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
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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