MCID: CMP039
MIFTS: 18

Camptodactyly 1

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Camptodactyly 1

MalaCards integrated aliases for Camptodactyly 1:

Name: Camptodactyly 1 57 13 73
Camptodactyly of Finger 29 6
Camptodactyly and Knuckle Pads 57
Camptodactyly of Fingers 59
Campd1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
camptodactyly 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 114200
Orphanet 59 ORPHA295016
ICD10 via Orphanet 34 Q68.1
MedGen 42 C2751430
SNOMED-CT via HPO 69 263681008 58320001 202281000
UMLS 73 C2751430

Summaries for Camptodactyly 1

OMIM : 57 Camptodactyly is defined as a permanent flexion contrature of 1 or both fifth fingers at the proximal interphalangeal joints. Additional fingers might be affected, but the little finger is always involved. Usually the condition appears to be sporadic in a family, but clinical examination of relatives reveals that it is an autosomal dominant condition subject to incomplete penetrance and variable expressivity (summary by Malik et al., 2008). (114200)

MalaCards based summary : Camptodactyly 1, also known as camptodactyly of finger, is related to otopalatodigital syndrome, type ii and knuckle pads. An important gene associated with Camptodactyly 1 is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6). Related phenotypes are camptodactyly of finger and knee dislocation

Related Diseases for Camptodactyly 1

Diseases related to Camptodactyly 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 11.0
2 knuckle pads 10.3

Symptoms & Phenotypes for Camptodactyly 1

Symptoms via clinical synopsis from OMIM:

57
Limbs:
camptodactyly
proximal interphalangeal finger joint contractures

Misc:
fifth finger most frequently affected

Joints:
knee-joint subluxation

Lab:
associated taurinuria


Clinical features from OMIM:

114200

Human phenotypes related to Camptodactyly 1:

32
# Description HPO Frequency HPO Source Accession
1 camptodactyly of finger 32 HP:0100490
2 knee dislocation 32 HP:0004976
3 increased urinary taurine 32 HP:0003166

Drugs & Therapeutics for Camptodactyly 1

Search Clinical Trials , NIH Clinical Center for Camptodactyly 1

Genetic Tests for Camptodactyly 1

Genetic tests related to Camptodactyly 1:

# Genetic test Affiliating Genes
1 Camptodactyly of Finger 29

Anatomical Context for Camptodactyly 1

Publications for Camptodactyly 1

Articles related to Camptodactyly 1:

# Title Authors Year
1
Camptodactyly and knuckle pads coexisting in an adolescent boy: connection or coincidence? ( 25781058 )
2015

Variations for Camptodactyly 1

ClinVar genetic disease variations for Camptodactyly 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
2 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
3 PIGL NM_004278.3(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 GRCh37 Chromosome 17, 16220000: 16220000
4 PIGL NM_004278.3(PIGL): c.500T> C (p.Leu167Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs145303331 GRCh38 Chromosome 17, 16316686: 16316686
5 PIGL NM_004278.3(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 GRCh38 Chromosome 17, 16217402: 16217402
6 PIGL NM_004278.3(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 GRCh37 Chromosome 17, 16120716: 16120716

Expression for Camptodactyly 1

Search GEO for disease gene expression data for Camptodactyly 1.

Pathways for Camptodactyly 1

GO Terms for Camptodactyly 1

Sources for Camptodactyly 1

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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