CCSPD
MCID: CMP081
MIFTS: 14

Camptosynpolydactyly, Complex (CCSPD)

Categories: Genetic diseases

Aliases & Classifications for Camptosynpolydactyly, Complex

MalaCards integrated aliases for Camptosynpolydactyly, Complex:

Name: Camptosynpolydactyly, Complex 58 76 30 6
Camptopolydactyly, Disorganization Type 58 76
Ccspd 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 patients from 1 family (last curated july 2016)


HPO:

33
camptosynpolydactyly, complex:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 607539
MedGen 43 C1843758

Summaries for Camptosynpolydactyly, Complex

UniProtKB/Swiss-Prot : 76 Camptosynpolydactyly, complex: An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails.

MalaCards based summary : Camptosynpolydactyly, Complex, is also known as camptopolydactyly, disorganization type. An important gene associated with Camptosynpolydactyly, Complex is BHLHA9 (Basic Helix-Loop-Helix Family Member A9). Related phenotypes are small nail and toenail dysplasia

Description from OMIM: 607539

Related Diseases for Camptosynpolydactyly, Complex

Symptoms & Phenotypes for Camptosynpolydactyly, Complex

Human phenotypes related to Camptosynpolydactyly, Complex:

33
# Description HPO Frequency HPO Source Accession
1 small nail 33 HP:0001792
2 toenail dysplasia 33 HP:0100797
3 camptodactyly 33 HP:0012385
4 cutaneous syndactyly 33 HP:0012725
5 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
camptodactyly
syndactyly
polydactyly
digits arising from dorsum of hand (in 1 patient)
partial fusion of metacarpals

Skin Nails Hair Nails:
hypoplastic nails
dysplastic nails
dysplastic toenails

Skeletal Feet:
cutaneous syndactyly
bulbous terminal phalanges of halluces
digit arising from dorsum of foot (in 1 patient)

Clinical features from OMIM:

607539

Drugs & Therapeutics for Camptosynpolydactyly, Complex

Search Clinical Trials , NIH Clinical Center for Camptosynpolydactyly, Complex

Genetic Tests for Camptosynpolydactyly, Complex

Genetic tests related to Camptosynpolydactyly, Complex:

# Genetic test Affiliating Genes
1 Camptosynpolydactyly, Complex 30 BHLHA9

Anatomical Context for Camptosynpolydactyly, Complex

Publications for Camptosynpolydactyly, Complex

Variations for Camptosynpolydactyly, Complex

ClinVar genetic disease variations for Camptosynpolydactyly, Complex:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BHLHA9 NM_001164405.1(BHLHA9): c.220_221delGAinsTT (p.Glu74Leu) indel Likely pathogenic rs886037856 GRCh37 Chromosome 17, 1174077: 1174078
2 BHLHA9 NM_001164405.1(BHLHA9): c.220_221delGAinsTT (p.Glu74Leu) indel Likely pathogenic rs886037856 GRCh38 Chromosome 17, 1270783: 1270784

Expression for Camptosynpolydactyly, Complex

Search GEO for disease gene expression data for Camptosynpolydactyly, Complex.

Pathways for Camptosynpolydactyly, Complex

GO Terms for Camptosynpolydactyly, Complex

Sources for Camptosynpolydactyly, Complex

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
Content
Loading form....