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 57 75 29 6
Camptopolydactyly, Disorganization Type 57 75
Ccspd 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
camptosynpolydactyly, complex:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607539
MedGen 42 C1843758

Summaries for Camptosynpolydactyly, Complex

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Camptosynpolydactyly, Complex:

32
# Description HPO Frequency HPO Source Accession
1 small nail 32 HP:0001792
2 toenail dysplasia 32 HP:0100797
3 camptodactyly 32 HP:0012385
4 cutaneous syndactyly 32 HP:0012725
5 polydactyly 32 HP:0010442

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 29 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 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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