CCSPD
MCID: CMP081
MIFTS: 16

Camptosynpolydactyly, Complex (CCSPD)

Categories: Genetic diseases

Aliases & Classifications for Camptosynpolydactyly, Complex

MalaCards integrated aliases for Camptosynpolydactyly, Complex:

Name: Camptosynpolydactyly, Complex 57 72 29 6 39
Camptopolydactyly, Disorganization Type 57 72
Ccspd 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
camptosynpolydactyly, complex:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 607539
MedGen 41 C1843758

Summaries for Camptosynpolydactyly, Complex

UniProtKB/Swiss-Prot : 72 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 camptodactyly

More information from OMIM: 607539

Related Diseases for Camptosynpolydactyly, Complex

Symptoms & Phenotypes for Camptosynpolydactyly, Complex

Human phenotypes related to Camptosynpolydactyly, Complex:

31
# Description HPO Frequency HPO Source Accession
1 small nail 31 HP:0001792
2 camptodactyly 31 HP:0012385
3 toenail dysplasia 31 HP:0100797
4 polydactyly 31 HP:0010442
5 cutaneous syndactyly 31 HP:0012725

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
camptodactyly
polydactyly
syndactyly
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 (Updated 05-Apr-2021)

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

Articles related to Camptosynpolydactyly, Complex:

# Title Authors PMID Year
1
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders. 57 6
27041388 2016
2
Complex camptopolydactyly: an unusual hand malformation. 6 57
10096595 1999
3
Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive mode of inheritance. 57
12476460 2003

Variations for Camptosynpolydactyly, Complex

ClinVar genetic disease variations for Camptosynpolydactyly, Complex:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BHLHA9 NM_001164405.1(BHLHA9):c.220_221delinsTT (p.Glu74Leu) Indel Likely pathogenic 253164 rs886037856 GRCh37: 17:1174077-1174078
GRCh38: 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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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