Aliases & Classifications for Cleft Chin

MalaCards integrated aliases for Cleft Chin:

Name: Cleft Chin 58
Chin Dimple 58
Dimple Chin 30

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cleft chin:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 119000
MedGen 43 C1849227

Summaries for Cleft Chin

OMIM : 58 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 and acquired angioedema type 1. 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
2 acquired angioedema type 1 10.1

Symptoms & Phenotypes for Cleft Chin

Human phenotypes related to Cleft Chin:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the face 33 HP:0000271
2 chin with vertical crease 33 HP:0400001

Symptoms via clinical synopsis from OMIM:

58
Facies:
y-shaped fissure of chin
peculiarity of mandible

Clinical features from OMIM:

119000

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 30

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 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
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