CAMPD1
MCID: CMP039
MIFTS: 20

Camptodactyly 1 (CAMPD1)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Camptodactyly 1

MalaCards integrated aliases for Camptodactyly 1:

Name: Camptodactyly 1 57 13 70
Camptodactyly of Finger 29 6
Camptodactyly and Knuckle Pads 57
Camptodactyly of Fingers 58
Campd1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
camptodactyly 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 114200
ICD10 via Orphanet 33 Q68.1
Orphanet 58 ORPHA295016
MedGen 41 C2751430
SNOMED-CT via HPO 68 202281000 263681008 58320001
UMLS 70 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) (Updated 20-May-2021)

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 increased urinary taurine

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:

31
# Description HPO Frequency HPO Source Accession
1 camptodactyly of finger 31 HP:0100490
2 increased urinary taurine 31 HP:0003166
3 joint subluxation 31 HP:0032153
4 knee dislocation 31 HP:0004976

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 PMID Year
1
Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred. 57 61
18000522 2008
2
Familial streblodactyly. 57
6195873 1983
3
Familial camptodactyly with taurinuria. 57
16178082 1966
4
Hereditary contractures of the fingers (camptodactyly). 57
5963204 1966
5
THE INHERITANCE OF THE RADIALLY CURVED LITTLE FINGER. 57
14277138 1965
6
FAMILIAL STREBLODACTLY WITH AMINO-ACIDURIA. 57
14065061 1963

Variations for Camptodactyly 1

ClinVar genetic disease variations for Camptodactyly 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ATP6 NC_012920.1:m.8993T>G SNV Pathogenic 9641 rs199476133 GRCh37: MT:8993-8993
GRCh38: MT:8993-8993
2 PIGL NM_004278.4(PIGL):c.176C>A (p.Pro59His) SNV Uncertain significance 374175 rs1057518948 GRCh37: 17:16120716-16120716
GRCh38: 17:16217402-16217402
3 PIGL NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) SNV Uncertain significance 30544 rs145303331 GRCh37: 17:16220000-16220000
GRCh38: 17:16316686-16316686

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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