MCID: KDS001
MIFTS: 57

Kid Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases categories
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Summaries for Kid Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 ectodermal dysplasia and sensorineural hearing loss, 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 Myometrial Relaxation and Contraction Pathways. The compounds proline and potassium have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, 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:47 148210,242150,602540

Aliases & Classifications for Kid Syndrome

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43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 20GeneTests, 22GTR, 62UMLS, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
kid syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

kid syndrome 43 21 49
keratitis-ichthyosis-deafness syndrome, autosomal dominant 43 20 22
keratitis-ichthyosis-deafness syndrome 21 47
senter syndrome 49 62
keratitis - ichthyosis - deafness/hystrix-like ichthyosis - deafness 49
ichthyosiform erythroderma, corneal involvement, and deafness 21
keratitis, ichthyosis, and deafness syndrome 43
ichthyosis, hystrix-like, with deafness 62
keratitis, ichthyosis, and deafness 21
kid syndrome, autosomal dominant 43
kid/hid syndrome 49


External Ids:

SNOMED-CT via Orphanet59 239059004
ICD10 via Orphanet26 Q80.8

Related Diseases for Kid Syndrome

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



Diseases related to kid syndrome

Symptoms for Kid Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

148210

Clinical features from OMIM:

148210,242150,602540

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Kid Syndrome

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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33MalaCards
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MalaCards organs/tissues related to Kid Syndrome:

33
Skin, Testes, Bone, Tongue, Eye, Cerebellum

Animal Models for Kid Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Kid Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8GJB3, GJB2, GJB6

Publications for Kid Syndrome

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Sources:
52PubMed
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Articles related to Kid Syndrome:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Quantitative analysis of fecal flora in goat kids with and without floppy kid syndrome. (23952589)
2013
2
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. (23924173)
2013
3
KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions. (21848689)
2012
4
Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. (19590522)
2010
5
Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications. (20629838)
2010
6
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. (20230788)
2010
7
Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome. (21182641)
2010
8
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). (22470741)
2010
9
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. (19785089)
2009
10
Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases. (19023871)
2009
11
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. (19793313)
2009
12
KID syndrome patient with toe walking: a case report. (19466627)
2009
13
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. (18412859)
2008
14
Long-term use of fluconazole for verrucous plaques of cutaneous candidiasis in KID syndrome. (18573732)
2008
15
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. (18313767)
2008
16
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. (18024254)
2008
17
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? (18950394)
2008
18
Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad. (17673397)
2007
19
KID syndrome. (18319008)
2007
20
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. (17330861)
2007
21
Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. (16679758)
2006
22
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. (17106596)
2006
23
Floppy kid syndrome caused by D-lactic acidosis in goat kids. (16955830)
2006
24
What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness). (16445421)
2006
25
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. (15823911)
2005
26
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. (12548749)
2003
27
HID and KID syndromes are associated with the same connexin 26 mutation. (12072059)
2002
28
Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. (12047643)
2002
29
KID syndrome: response to acitretin. (12227483)
2002
30
Keratitis, ichthyosis, and deafness (KID) syndrome. (12437553)
2002
31
Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome. (11889383)
2002
32
KID syndrome associated with features of ichthyosis hystrix. (10792799)
2000
33
KID syndrome: report of a case and support for its reclassification as an ectodermal dysplasia. (10886766)
2000
34
The pattern of inheritance in KID syndrome. (10337688)
1999
35
Keratitis, ichthyosis and deafness (KID) syndrome. (9071613)
1997
36
Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. (9122065)
1996
37
KID syndrome associated with elevated sweat chloride. (8860076)
1996
38
Keratitis, ichthyosis and deafness (KID) syndrome. (20953002)
1995
39
Oral fluconazole treatment of fungating candidiasis in the keratitis, ichthyosis and deafness (KID) syndrome. (7857850)
1994
40
Keratitis, ichthyosis, deafness (KID) syndrome. (8033401)
1994
41
Keratitis, ichthyosis, deafness (KID) syndrome--the first report from India. (8080475)
1993
42
Keratitis, ichthyosis, and deafness (KID) syndrome: management with chronic oral ketoconazole therapy. (1737693)
1992
43
Keratitis, ichthyosis, and deafness (KID) syndrome with adult onset of keratitis component. (2323870)
1990
44
Senter/KID syndrome. (2528514)
1989
45
Jaccoud arthropathy and acroosteolysis in KID syndrome. (2810288)
1989
46
Keratitis, ichthyosis, and deafness (KID) syndrome with cerebellar hypoplasia. (3235255)
1988
47
Keratitis, ichthyosis and deafness (KID syndrome). (3426484)
1987
48
Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. (3579358)
1987
49
KID syndrome: congenital ichthyosiform dermatosis with keratitis and deafness--report of the first case in Japan. (3301962)
1987
50
KID syndrome (keratitis, ichthyosis, and deafness) and chronic mucocutaneous candidiasis: case report and review of the literature. (6390393)
1984

Variations for Kid Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Kid Syndrome:

64
id Symbol AA change Variation ID SNP ID
1GJB2p.Gly12ArgVAR_015453
2GJB2p.Ser17PheVAR_015454rs28929485
3GJB2p.Asp50AsnVAR_015456rs28931594
4GJB2p.Asp50TyrVAR_015935

Clinvar genetic disease variations for Kid Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1GJB2NM_004004.5(GJB2): c.148G> A (p.Asp50Asn)single nucleotide variantPathogenicrs28931594GRCh37Chr 13, 20763573: 20763573
2GJB2NM_004004.5(GJB2): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs104894408GRCh37Chr 13, 20763687: 20763687
3GJB2NM_004004.5(GJB2): c.50C> T (p.Ser17Phe)single nucleotide variantPathogenicrs28929485GRCh37Chr 13, 20763671: 20763671
4GJB2NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr)single nucleotide variantPathogenicrs28931594GRCh37Chr 13, 20763573: 20763573
5GJB2NM_004004.5(GJB2): c.134G> A (p.Gly45Glu)single nucleotide variantPathogenicrs72561723GRCh37Chr 13, 20763587: 20763587

Expression for genes affiliated with Kid Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kid Syndrome

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Pathways for genes affiliated with Kid Syndrome

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50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG
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Compounds for genes affiliated with Kid Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 3BitterDB
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Compounds related to Kid Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline459.4GJB2, GJB3
2potassium45 24 1111.1GJB2, GJB3
310panx618.2GJB2, GJB4, GJB3, GJB6
4scrambled 10panx618.2GJB3, GJB4, GJB2, GJB6
5carbenoxolone disodium618.2GJB3, GJB4, GJB2, GJB6
6gap 27618.1GJB3, GJB4, GJB2, GJB6
7octanol29 249.1GJB3, GJB4, GJB2, GJB6
8carbenoxolone45 29 1110.1GJB6, GJB2, GJB4, GJB3
9ca2+298.0GJB3, GJB4, GJB2, GJB6
10flufenamic acid29 45 3 1110.9GJB3, 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
1integral component of membraneGO:0160218.0GJB3, GJB4, GJB2, GJB6
2connexon complexGO:0059227.7GJB3, GJB4, GJB2, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076058.8GJB3, GJB2, GJB6
2cell communicationGO:0071548.2GJB3, GJB4, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:0052439.4GJB3, GJB2

Products for genes affiliated with Kid Syndrome

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  • Antibodies
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Sources for Kid Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet