CHANDS
MCID: CHN019
MIFTS: 21

Chand Syndrome (CHANDS)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chand Syndrome

MalaCards integrated aliases for Chand Syndrome:

Name: Chand Syndrome 58 60 76
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 58 60 74
Chands 58 60 76
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome 76 6
Baughman Syndrome 60
Nails, Malformed 45

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
chand syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 214350
UMLS via Orphanet 75 C0406733
Orphanet 60 ORPHA1401
MedGen 43 C0406733
UMLS 74 C0406733

Summaries for Chand Syndrome

OMIM : 58 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). Affiliated tissues include skin, and related phenotypes are nail dysplasia and curly hair

UniProtKB/Swiss-Prot : 76 CHAND syndrome: An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula.

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 10.1
3 ectodermal dysplasia 10.1

Symptoms & Phenotypes for Chand Syndrome

Human phenotypes related to Chand Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 nail dysplasia 33 HP:0002164
2 curly hair 33 HP:0002212
3 ankyloblepharon 33 HP:0009755
4 commissural lip pit 33 HP:0002710

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Chand Syndrome

Search Clinical Trials , NIH Clinical Center for Chand Syndrome

Cochrane evidence based reviews: nails, malformed

Genetic Tests for Chand Syndrome

Anatomical Context for Chand Syndrome

MalaCards organs/tissues related to Chand Syndrome:

42
Skin

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 GRCh37 Chromosome 21, 43171392: 43171392
2 RIPK4 NM_020639.2(RIPK4): c.488G> A (p.Gly163Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 41751232: 41751232
3 RIPK4 NM_020639.2(RIPK4): c.850G> A (p.Glu284Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 41745845: 41745845
4 RIPK4 NM_020639.2(RIPK4): c.850G> A (p.Glu284Lys) single nucleotide variant Pathogenic 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 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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