CHANDS
MCID: CHN019
MIFTS: 31

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 57 59 74
Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome 74 29 6
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome 57 59 72
Chands 57 59 74
Baughman Syndrome 59
Nails, Malformed 44

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
UMLS via Orphanet 73 C0406733
Orphanet 59 ORPHA1401
MedGen 42 C0406733
UMLS 72 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 ankyloblepharon-ectodermal defects-cleft lip/palate and rapp-hodgkin syndrome. An important gene associated with Chand Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4). The drugs Wormwood and Mugwort have been mentioned in the context of this disorder. Affiliated tissues include skin and tongue, and related phenotypes are nail dysplasia and curly hair

UniProtKB/Swiss-Prot : 74 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ankyloblepharon-ectodermal defects-cleft lip/palate 10.2
2 rapp-hodgkin syndrome 10.2
3 bartsocas-papas syndrome 10.2
4 ectodermal dysplasia 10.2
5 cleft lip 10.2
6 cleft lip/palate 10.2
7 ataxia and polyneuropathy, adult-onset 10.1
8 popliteal pterygium syndrome 10.1
9 choanal atresia, posterior 10.1
10 nail disorder, nonsyndromic congenital, 9 10.1
11 autosomal recessive disease 10.1
12 anhidrosis 10.1

Graphical network of the top 20 diseases related to Chand Syndrome:



Diseases related to Chand Syndrome

Symptoms & Phenotypes for Chand Syndrome

Human phenotypes related to Chand Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002164
2 curly hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002212
3 ankyloblepharon 59 32 hallmark (90%) Very frequent (99-80%) HP:0009755
4 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
7 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
8 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
9 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
10 atelectasis 59 32 frequent (33%) Frequent (79-30%) HP:0100750
11 hydroureter 59 32 frequent (33%) Frequent (79-30%) HP:0000072
12 abnormal oral frenulum morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000190
13 bifid tongue 59 32 frequent (33%) Frequent (79-30%) HP:0010297
14 commissural lip pit 59 32 frequent (33%) Frequent (79-30%) HP:0002710
15 agenesis of permanent teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006349
16 imperforate hymen 59 32 frequent (33%) Frequent (79-30%) HP:0030011
17 agenesis of maxillary incisor 59 32 frequent (33%) Frequent (79-30%) HP:0200160
18 short fifth metatarsal 59 32 occasional (7.5%) Occasional (29-5%) HP:0004704
19 motor delay 59 Excluded (0%)
20 skin erosion 59 Excluded (0%)

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

Drugs & Therapeutics for Chand Syndrome

Drugs for Chand Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Wormwood Approved, Experimental Phase 3
2 Mugwort Phase 3
3
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
4 Pharmaceutical Solutions Phase 2
5 Neurotransmitter Agents Phase 2
6 abobotulinumtoxinA Phase 2
7 Neuromuscular Agents Phase 2
8 Cholinergic Agents Phase 2
9 Acetylcholine Release Inhibitors Phase 2
10 Peripheral Nervous System Agents Phase 2
11 Anesthetics Phase 2
12 Botulinum Toxins Phase 2
13 Botulinum Toxins, Type A Phase 2
14
Sirolimus Approved, Investigational Phase 1 53123-88-9 6436030 5284616 46835353
15
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
16
Everolimus Approved Phase 1 159351-69-6 6442177 70789204
17 Antifungal Agents Phase 1
18 Anti-Infective Agents Phase 1
19 Anti-Bacterial Agents Phase 1
20 Immunosuppressive Agents Phase 1
21 Antibiotics, Antitubercular Phase 1
22 Immunologic Factors Phase 1
23
Simvastatin Approved 79902-63-9 54454
24 Lipid Regulating Agents
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors
26 Hypolipidemic Agents
27 Antimetabolites
28 Anticholesteremic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Efficacy of Nail Gel Containing Artemisia Abrotanum Extract and Glycerin in Finger Nail Surface Abnormality Unknown status NCT02582762 Phase 3 Nail gel
2 A Multicenter, Four-Part, Phase 2/3 Study Evaluating the Safety and Efficacy of PTX-022 in the Treatment of Adults With Moderate to Severe Pachyonychia Congenita Recruiting NCT03920228 Phase 2, Phase 3 PTX-022;Placebo
3 Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study Unknown status NCT00936533 Phase 2 Dysport® (Botulinumtoxin A (Btx A));Placebo
4 Phase 1b Clinical Trial Using Topical Sirolimus for the Treatment of Pachyonychia Congenita Completed NCT02152007 Phase 1 1% sirolimus cream (TD201 1%)
5 A Single-Center, Placebo-Controlled, Rising Dose to Tolerance and Safety Study of TD101, an siRNA Designed for Treatment of Pachyonychia Congenita Completed NCT00716014 Phase 1 TD101;Normal saline (placebo)
6 Effect of Broccoli Sprout Extract on Keratinocyte Differentiation in Normal Skin Completed NCT02592954 Phase 1 Jojoba oil with broccoli sprout extract;Jojoba oil (placebo)
7 Simvastatin Treatment of Pachyonychia Congenita Unknown status NCT01382511 Simvastatine
8 International Pachyonychia Congenita Research Registry Recruiting NCT02321423

Search NIH Clinical Center for Chand Syndrome

Cochrane evidence based reviews: nails, malformed

Genetic Tests for Chand Syndrome

Genetic tests related to Chand Syndrome:

# Genetic test Affiliating Genes
1 Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome 29 RIPK4

Anatomical Context for Chand Syndrome

MalaCards organs/tissues related to Chand Syndrome:

41
Skin, Tongue

Publications for Chand Syndrome

Articles related to Chand Syndrome:

(show all 11)
# Title Authors PMID Year
1
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome. 38 8 71
28940926 2017
2
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. 38 8 71
26129644 2015
3
Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome. 8 71
23610050 2013
4
Alveolar synechia-ankyloblepharon-ectodermal defects likely CHANDS. 38 8
8209899 1994
5
Re-evaluation of CHANDS. 38 8
490586 1979
6
Alveolar synechia, ankyloblepharon, and ectodermal disorders: an autosomal recessive disorder? 8
2012123 1991
7
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome. 38
29440852 2018
8
Hay-Wells syndrome in a child with mutation in the TP73L gene. 38
17910675 2007
9
Ectodermal dysplasia showing clinical overlap between AEC, Rapp-Hodgkin and CHAND syndromes. 38
15347331 2004
10
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. 38
10886756 2000
11
CHANDS: the curly hair-ankyloblepharon-nail dysplasia syndrome. 38
5173251 1971

Variations for Chand Syndrome

ClinVar genetic disease variations for Chand Syndrome:

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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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