Aliases & Classifications for Chand Syndrome

MalaCards integrated aliases for Chand Syndrome:

Name: Chand Syndrome 57
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 57 73
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome 6
Chands 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
chands is an acronym for curly hair, ankyloblepharon filiform, nail dysplasia


HPO:

32
chand syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 214350
MedGen 42 C0406733
UMLS 73 C0406733

Summaries for Chand Syndrome

OMIM : 57 CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017). (214350)

MalaCards based summary : Chand Syndrome, also known as curly hair-ankyloblepharon-nail dysplasia syndrome, is related to nail disorder, nonsyndromic congenital, 9 and bartsocas-papas syndrome. An important gene associated with Chand Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4). Related phenotypes are nail dysplasia and curly hair

Related Diseases for Chand Syndrome

Diseases related to Chand Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 9 10.1
2 bartsocas-papas syndrome 10.0
3 ectodermal dysplasia 10.0

Symptoms & Phenotypes for Chand Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
nail dysplasia

Head And Neck Mouth:
commissural lip pits

Skin Nails Hair Hair:
curly hair

Head And Neck Eyes:
ankyloblepharon filiform


Clinical features from OMIM:

214350

Human phenotypes related to Chand Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 nail dysplasia 32 HP:0002164
2 curly hair 32 HP:0002212
3 ankyloblepharon 32 HP:0009755
4 commissural lip pit 32 HP:0002710

Drugs & Therapeutics for Chand Syndrome

Search Clinical Trials , NIH Clinical Center for Chand Syndrome

Genetic Tests for Chand Syndrome

Anatomical Context for Chand Syndrome

Publications for Chand Syndrome

Articles related to Chand Syndrome:

# Title Authors Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. ( 28940926 )
2017
2
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. ( 10886756 )
2000
3
CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome. ( 5173251 )
1971

Variations for Chand Syndrome

ClinVar genetic disease variations for Chand Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RIPK4 NM_020639.2(RIPK4): c.488G> A (p.Gly163Asp) single nucleotide variant Uncertain significance rs764278537 GRCh37 Chromosome 21, 43171392: 43171392
2 RIPK4 NM_020639.2(RIPK4): c.488G> A (p.Gly163Asp) single nucleotide variant Uncertain significance rs764278537 GRCh38 Chromosome 21, 41751232: 41751232
3 RIPK4 NM_020639.2(RIPK4): c.850G> A (p.Glu284Lys) single nucleotide variant Pathogenic rs199835696 GRCh38 Chromosome 21, 41745845: 41745845
4 RIPK4 NM_020639.2(RIPK4): c.850G> A (p.Glu284Lys) single nucleotide variant Pathogenic rs199835696 GRCh37 Chromosome 21, 43166005: 43166005

Expression for Chand Syndrome

Search GEO for disease gene expression data for Chand Syndrome.

Pathways for Chand Syndrome

GO Terms for Chand Syndrome

Sources for Chand Syndrome

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
Content
Loading form....