Aliases & Classifications for Cleft Chin

MalaCards integrated aliases for Cleft Chin:

Name: Cleft Chin 57
Chin Dimple 57
Dimple Chin 29

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cleft chin:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 119000
MedGen 42 C1849227

Summaries for Cleft Chin

OMIM : 57 A bony peculiarity underlies the Y-shaped fissure of the chin. (119000)

MalaCards based summary : Cleft Chin, also known as chin dimple, is related to weaver syndrome. Related phenotypes are abnormality of the face and chin with vertical crease

Related Diseases for Cleft Chin

Diseases related to Cleft Chin via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 weaver syndrome 11.2

Symptoms & Phenotypes for Cleft Chin

Symptoms via clinical synopsis from OMIM:

57
Facies:
y-shaped fissure of chin
peculiarity of mandible


Clinical features from OMIM:

119000

Human phenotypes related to Cleft Chin:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the face 32 HP:0000271
2 chin with vertical crease 32 HP:0400001

Drugs & Therapeutics for Cleft Chin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome Recruiting NCT01144741

Search NIH Clinical Center for Cleft Chin

Genetic Tests for Cleft Chin

Genetic tests related to Cleft Chin:

# Genetic test Affiliating Genes
1 Dimple Chin 29

Anatomical Context for Cleft Chin

Publications for Cleft Chin

Articles related to Cleft Chin:

# Title Authors Year
1
"Dimple"-matically correct - Revisiting the technique for the creation of a chin dimple. ( 22754173 )
2012
2
Incidence of cleft chin among the Adi and Apatani of Arunachal Pradesh, Northeast India. ( 4062261 )
1985
3
A population genetic study of cleft chin in India. ( 5082930 )
1972

Variations for Cleft Chin

Expression for Cleft Chin

Search GEO for disease gene expression data for Cleft Chin.

Pathways for Cleft Chin

GO Terms for Cleft Chin

Sources for Cleft Chin

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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