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 58 13 74
Camptodactyly of Finger 30 6
Camptodactyly and Knuckle Pads 58
Camptodactyly of Fingers 60
Campd1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
camptodactyly 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 114200
ICD10 via Orphanet 35 Q68.1
Orphanet 60 ORPHA295016
MedGen 43 C2751430
SNOMED-CT via HPO 70 202281000 263681008 58320001
UMLS 74 C2751430

Summaries for Camptodactyly 1

OMIM : 58 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

Human phenotypes related to Camptodactyly 1:

33
# Description HPO Frequency HPO Source Accession
1 camptodactyly of finger 33 HP:0100490
2 knee dislocation 33 HP:0004976
3 increased urinary taurine 33 HP:0003166

Symptoms via clinical synopsis from OMIM:

58
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

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 30

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 46;XY;t(6;11)(p12.3;p14.2)dn Translocation Pathogenic
6 46;X;t(X;21)(q26.1;q21.22)dn Translocation Uncertain significance
7 PIGL NM_004278.3(PIGL): c.176C> A (p.Pro59His) single nucleotide variant Uncertain significance rs1057518948 GRCh38 Chromosome 17, 16217402: 16217402
8 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 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....