MCID: KDS001
MIFTS: 58

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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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 based summary: Kid Syndrome, also known as keratitis-ichthyosis-deafness syndrome, autosomal dominant, is related to ectodermal dysplasia and sensorineural hearing loss, and has symptoms including corneal clouding/opacity/vascularisation, chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis and mild visual loss/impaired visual acuity. 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, eye 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.

Descriptions from OMIM:46 148210,242150,602540

Aliases & Classifications for Kid Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Kid Syndrome, Aliases & Descriptions:

Name: Kid Syndrome 42 21 48
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 42 20 22
Keratitis-Ichthyosis-Deafness Syndrome 21 46 62
Senter Syndrome 48 62
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 62
Keratitis, Ichthyosis, and Deafness 21
Kid Syndrome, Autosomal Dominant 42
Kid/hid Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 Q80.8

Related Diseases for Kid Syndrome

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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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Symptoms by clinical synopsis from OMIM:

148210

Clinical features from OMIM:

148210,242150,602540

Symptoms:

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

HPO human phenotypes related to Kid Syndrome:

(show all 73)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 abnormality of the eyelashes hallmark (90%) HP:0000499
3 visual impairment hallmark (90%) HP:0000505
4 photophobia hallmark (90%) HP:0000613
5 hypermelanotic macule hallmark (90%) HP:0001034
6 osteolysis hallmark (90%) HP:0002797
7 opacification of the corneal stroma hallmark (90%) HP:0007759
8 ichthyosis hallmark (90%) HP:0008064
9 abnormality of immune system physiology hallmark (90%) HP:0010978
10 abnormal hair quantity hallmark (90%) HP:0011362
11 inflammatory abnormality of the eye hallmark (90%) HP:0100533
12 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
13 skin ulcer hallmark (90%) HP:0200042
14 furrowed tongue typical (50%) HP:0000221
15 hypohidrosis typical (50%) HP:0000966
16 palmoplantar keratoderma typical (50%) HP:0000982
17 abnormality of the fingernails typical (50%) HP:0001231
18 hypoplastic toenails typical (50%) HP:0001800
19 fine hair typical (50%) HP:0002213
20 abnormal hair quantity typical (50%) HP:0011362
21 cryptorchidism occasional (7.5%) HP:0000028
22 preauricular skin tag occasional (7.5%) HP:0000384
23 visual impairment occasional (7.5%) HP:0000505
24 carious teeth occasional (7.5%) HP:0000670
25 delayed eruption of teeth occasional (7.5%) HP:0000684
26 urticaria occasional (7.5%) HP:0001025
27 reduced tendon reflexes occasional (7.5%) HP:0001315
28 arthritis occasional (7.5%) HP:0001369
29 aganglionic megacolon occasional (7.5%) HP:0002251
30 delayed skeletal maturation occasional (7.5%) HP:0002750
31 short stature occasional (7.5%) HP:0004322
32 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
33 aplasia/hypoplasia of the cerebellum occasional (7.5%) HP:0007360
34 neoplasm of the skin occasional (7.5%) HP:0008069
35 cognitive impairment occasional (7.5%) HP:0100543
36 corneal erosion occasional (7.5%) HP:0200020
37 autosomal dominant inheritance HP:0000006
38 furrowed tongue HP:0000221
39 sensorineural hearing impairment HP:0000407
40 recurrent corneal erosions HP:0000495
41 sparse eyebrow HP:0000535
42 corneal scarring HP:0000559
43 photophobia HP:0000613
44 blindness HP:0000618
45 sparse eyelashes HP:0000653
46 hyperkeratosis HP:0000962
47 hypohidrosis HP:0000966
48 keratoconjunctivitis sicca HP:0001097
49 trichiasis HP:0001128
50 pes cavus HP:0001761
51 nail dysplasia HP:0002164
52 oral leukoplakia HP:0002745
53 squamous cell carcinoma HP:0002860
54 elbow flexion contracture HP:0002987
55 recurrent bacterial skin infections HP:0005406
56 knee flexion contracture HP:0006380
57 ichthyosis HP:0008064
58 nail dystrophy HP:0008404
59 abnormality of corneal stroma HP:0011492
60 autosomal recessive inheritance HP:0000007
61 sensorineural hearing impairment HP:0000407
62 conjunctivitis HP:0000509
63 myopia HP:0000545
64 keratoconus HP:0000563
65 photophobia HP:0000613
66 decreased lacrimation HP:0000633
67 intellectual disability HP:0001249
68 cirrhosis HP:0001394
69 failure to thrive HP:0001508
70 alopecia HP:0001596
71 fragile nails HP:0001808
72 short stature HP:0004322
73 ichthyosis HP:0008064

Drugs & Therapeutics for Kid Syndrome

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Drug clinical trials:

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Genetic Tests for Kid Syndrome

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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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MalaCards organs/tissues related to Kid Syndrome:

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

Animal Models for Kid Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Kid Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8GJB3, GJB2, GJB6

Publications for Kid Syndrome

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Articles related to Kid Syndrome:

(show top 50)    (show all 71)
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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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:

6
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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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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Compounds for genes affiliated with Kid Syndrome

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Compounds related to Kid Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1proline449.4GJB2, GJB3
2potassium44 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
7octanol28 249.1GJB3, GJB4, GJB2, GJB6
8carbenoxolone44 28 1110.1GJB6, GJB2, GJB4, GJB3
9ca2+288.0GJB3, GJB4, GJB2, GJB6
10flufenamic acid28 44 2 1110.9GJB3, GJB4, GJB2, GJB6

GO Terms for genes affiliated with Kid Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet