MCID: KDS001
MIFTS: 52

Kid Syndrome malady

Eye diseases, Ear diseases, Skin diseases, Fetal diseases categories

Summaries for Kid Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Keratitis ichthyosis deafness (kid) syndrome is a very rare, inherited, multi-system disorder. less than 100 cases have been reported in the medical literature. it is characterized by defects of the surface of the corneas (keratitis); red, rough, thickened plaques of skin (erythrokeratoderma); and sensorineural deafness or severe hearing impairment. the skin on the palms of the hands and soles of the feet as well as the nails may be affected. kid syndrome belongs to a group of skin disorders marked by dry, scaly skin known as the ichthyoses. kid syndrome is inherited as an autosomal dominant trait and is caused by specific mutations in the gjb2 gene. last updated: 9/9/2011

MalaCards: Kid Syndrome, also known as keratitis-ichthyosis-deafness syndrome, autosomal dominant, is related to keratitis and keratosis, and has symptoms including urticaria, thick skin/pachydermia/orange skin and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Kid Syndrome is GJB2 (gap junction protein, beta 2, 26kDa), and among its related pathways are Cell adhesion Gap junctions and Calcium Regulation in the Cardiac Cell. The compounds gap 27 and scrambled 10panx have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related mouse phenotype no phenotypic analysis.

Genetics Home Reference:21 Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.

Description from OMIM:46 148210,242150,602540

Aliases & Classifications for Kid Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 20GeneTests, 22GTR, 60UMLS, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Ear diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
kid syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

kid syndrome 42 21 48
keratitis-ichthyosis-deafness syndrome, autosomal dominant 42 20 22
keratitis-ichthyosis-deafness syndrome 21 46
senter syndrome 48 60
keratitis - ichthyosis - deafness/hystrix-like ichthyosis - deafness 48
ichthyosiform erythroderma, corneal involvement, and deafness 21
keratitis, ichthyosis, and deafness syndrome 42
ichthyosis, hystrix-like, with deafness 60
keratitis, ichthyosis, and deafness 21
kid syndrome, autosomal dominant 42
kid/hid syndrome 48


External Ids:

SNOMED-CT via Orphanet57 239059004
ICD10 via Orphanet26 Q80.8

Related Diseases for Kid Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Kid Syndrome:



Diseases related to kid syndrome

Clinical Features for Kid Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

148210,242150,602540

Clinical synopsis from OMIM:

148210

Symptoms:

48 (show all 49)
  • urticaria
  • thick skin/pachydermia/orange skin
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hearing loss/hypoacusia/deafness
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • multiple caries
  • anomalies of teeth and dentition
  • visual loss/blindness/amblyopia
  • corneal ulceration/perforation
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • short stature/dwarfism/nanism
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • neoplasms/tumors
  • musculo-tendinous retractions
  • arthritis/synovitis/synovial proliferation
  • delayed bone age
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • areflexia/hyporeflexia
  • tags on cheeks
  • dysplastic/thick/grooved toenails
  • thin/hypoplastic toenails
  • macules
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • chronic skin infection/ulcerations/ulcers/cancrum
  • ichthyosis/ichthyosiform dermatitis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • sensorineural deafness/hearing loss
  • absent/decreased lashes
  • absent/decreased/thin eyebrows
  • photophobia
  • mild visual loss/impaired visual acuity
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • enanthema/aphtosa/aphta/leukoplakia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • osteolysis/osteoclasia/bone destruction/erosions
  • dysplastic/thick/grooved fingernails
  • thin/hypoplastic/hyperconvex fingernails
  • fine hair
  • decreased body hair/axillar/pubic hairlessness
  • palmoplantar hyperkeratosis/keratoderma
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • fissured/scrotal tongue
  • anomalies of tongue, gingiva and oral mucosa
  • autosomal recessive inheritance
  • autosomal dominant inheritance
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • corneal clouding/opacity/vascularisation

Drugs & Therapeutics for Kid Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Kid Syndrome

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Genetic Tests for Kid Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Kid Syndrome:

id Genetic test Affiliating Genes
1 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant20 22 GJB2

Anatomical Context for Kid Syndrome

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32MalaCards
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MalaCards organs/tissues related to Kid Syndrome:

32
Skin, Eye, Testes, Bone, Tongue, Cerebellum

Animal Models for Kid Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Kid Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5GJB2, GJB3, GJB6

Publications for Kid Syndrome

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Genetic Variations for Kid Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Kid Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GJB2p.Gly12ArgVAR_015453
2GJB2p.Ser17PheVAR_015454rs28929485
3GJB2p.Asp50AsnVAR_015456rs28931594
4GJB2p.Asp50TyrVAR_015935

Expression for genes affiliated with Kid Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kid Syndrome

Search GEO for disease gene expression data for Kid Syndrome.

Pathways for genes affiliated with Kid Syndrome

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Sources:
12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Pathways related to Kid Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Cell adhesion Gap junctions
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9.1GJB2, GJB3
28.0GJB4, GJB2, GJB3, GJB6
38.0GJB6, GJB3, GJB2, GJB4
48.0GJB6, GJB3, GJB2, GJB4
5
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8.0GJB4, GJB2, GJB3, GJB6

Compounds for genes affiliated with Kid Syndrome

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Sources:
59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Kid Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gap 27598.2GJB4, GJB2, GJB3, GJB6
2scrambled 10panx598.1GJB6, GJB3, GJB2, GJB4
3carbenoxolone disodium598.1GJB4, GJB2, GJB3, GJB6
410panx598.1GJB6, GJB3, GJB2, GJB4
5octanol28 249.0GJB2, GJB4, GJB3, GJB6
6flufenamic acid44 28 2 1111.0GJB6, GJB3, GJB2, GJB4
7carbenoxolone28 44 119.9GJB4, GJB2, GJB3, GJB6
8ca2+287.7GJB3, GJB4, GJB2, GJB6

GO Terms for genes affiliated with Kid Syndrome

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16Gene Ontology
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Cellular components related to Kid Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junctionGO:0059218.8GJB3, GJB4
2integral to membraneGO:0160218.0GJB4, GJB2, GJB3, GJB6
3connexon complexGO:0059227.9GJB4, GJB2, GJB3, GJB6

Biological processes related to Kid Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076058.5GJB2, GJB3, GJB6
2cell communicationGO:0071548.2GJB4, GJB3, GJB6

Molecular functions related to Kid Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052438.6GJB4, GJB2, GJB3

Products for genes affiliated with Kid Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kid Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet