MCID: KDS001
MIFTS: 55

Kid Syndrome malady

Eye, Ear, Skin, Fetal categories

Summaries for Kid Syndrome

Sources:
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 keratoderma and ectodermal dysplasia, and has symptoms including autosomal recessive inheritance, cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia 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 Membrane Trafficking. The compounds gap 27 and scrambled 10panx have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver, 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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


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 61
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 61
keratitis, ichthyosis, and deafness 21
kid syndrome, autosomal dominant 43
kid/hid syndrome 49


External Ids:

ICD10 via Orphanet26 Q80.8

Related Diseases for Kid Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to kid syndrome

Clinical Features for Kid Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

148210,242150,602540

Clinical synopsis from OMIM:

148210

Symptoms:

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

Drugs & Therapeutics for Kid Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Kid Syndrome

Drug clinical trials:

Search ClinicalTrials for Kid Syndrome

Search NIH Clinical Center for Kid Syndrome

Search CenterWatch for Kid Syndrome

Genetic Tests for Kid Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Kid Syndrome:

33
Skin, Ovary, Liver, Brain, Kidney, Lung, Spleen, Heart, Skeletal muscle, Small intestine, Colon, Pancreas, Thyroid, T cells, B cells, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Kid Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Kid Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5GJB2, GJB3, GJB6

Publications for Kid Syndrome

Sources:
51PubMed
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Articles related to Kid Syndrome:

(show top 50)    (show all 408)
idTitleAuthorsYear
1
Increasing frequency of acute kidney injury amongst children hospitalized with nephrotic syndrome. (24037143)
2014
2
Hereditary kidney cancer syndromes. (24359990)
2014
3
The effects of bromocriptine on VEGF, kidney function and ovarian hyperstimulation syndrome in in vitro fertilization patients: a pilot study. (23167783)
2013
4
Cardiac troponin I in non- acute coronary syndrome patients with chronic kidney disease. (24349354)
2013
5
Posterior reversible encephalopathy syndrome as the first presentation of chronic kidney disease. (24342863)
2013
6
Prevalence of Metabolic Syndrome in Chronic Kidney Disease: A Hospital Based Cross-sectional Study. (24362613)
2013
7
Characteristics of testosterone deficiency syndrome in men with chronic kidney disease and male renal transplant recipients: a cross-sectional study. (24157015)
2013
8
Clinical treatment of myasthenia gravis with deficiency of spleen and kidney based on combination of disease with syndrome theory. (24187863)
2013
9
Interpreting cardiac troponin results from highly sensitive assays in patients with chronic kidney disease: acute coronary syndromes and beyond. (24128885)
2013
10
A patient with a floating kidney and nephrotic syndrome. (23211337)
2012
11
Salvaging kidneys with renal allograft compartment syndrome. (22309228)
2012
12
Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney. (22611646)
2012
13
Acute kidney injury in patients with hemorrhagic fever with renal syndrome caused by Hantaan virus: comparative evaluation by RIFLE and AKIN criteria. (21142962)
2011
14
Lumbar incisional hernia of the kidney after laparoscopic adrenalectomy in a patient with Cushing's syndrome. (21734358)
2011
15
Billateral polycystic kidneys in a girl with WAGR syndrome. (21660403)
2011
16
Angiopoietin-2 in patients requiring renal replacement therapy in the ICU: relation to acute kidney injury, multiple organ dysfunction syndrome and outcome. (19956923)
2010
17
Heart and kidney: the cardiorenal syndrome in cardiogenic shock. (20083931)
2010
18
Cushing's syndrome, glucocorticoids and the kidney. (20655918)
2010
19
A controlled study of psychiatric manifestations and electroencephalography findings in chronic kidney disease patients with Sagliker syndrome. (20797571)
2010
20
Peters plus syndrome and absence of kidney: a case report. (19118497)
2009
21
Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome. (19028755)
2009
22
Serum retinol-binding protein concentration and its association with components of the uremic metabolic syndrome in nondiabetic patients with chronic kidney disease stage 5. (19023195)
2009
23
Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome. (19005013)
2009
24
Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli. (18787044)
2008
25
An incidental coexistence of Mayer-Rokitansky-Kuster-Hauser syndrome with pelvic ectopic kidney and perirenal endometrioma. (18813424)
2008
26
Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. (16604972)
2006
27
Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. (16440880)
2005
28
Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up. (16313315)
2005
29
Alport syndrome: HLA association and kidney graft outcome. (15182324)
2004
30
Obstructed ectopic kidney mimicking Chilaiditi syndrome on F-18 FDG imaging. (12897663)
2003
31
Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. (11737429)
2001
32
Multicystic dysplastic kidney and Kallmann's syndrome: a new association? (11390716)
2001
33
Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys. (10854213)
2000
34
T-type pelvis with separate kidneys associated with complete duplication of the ureter in a male infant with the prune belly syndrome. (10210423)
1999
35
Kidney disease in Bardet-Biedl syndrome. (9509476)
1998
36
A case of rapidly fatal systemic capillary leak syndrome in a kidney transplant recipient. (9489137)
1997
37
Paraneoplastic syndromes of the kidney. (9208891)
1997
38
Renal transplantation from living donor parents in two brothers with Alport syndrome. Can asymptomatic female carriers of the Alport gene be accepted as kidney donors? (7617088)
1995
39
Cystic kidney disease in Hajdu-Cheney syndrome. (7747781)
1995
40
Focal dermal hypoplasia (Goltz syndrome) with horseshoe kidney abnormality. (2080123)
1990
41
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? (3409932)
1988
42
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
43
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. (3560170)
1987
44
Turner's syndrome with agenesis of the corpus callosum, Hashimoto's thyroiditis and horseshoe kidney. (3144902)
1987
45
Duodenal obstruction, annular pancreas, and horseshoe kidney in an infant with Cornelia de Lange syndrome. (7177088)
1982
46
Cystic kidneys in a patient with oral-facial-digital syndrome type I. (7072712)
1982
47
Median cleft face syndrome or frontonasal dysplasia: a case report with associated kidney malformation. (438926)
1979
48
On the maleic acid induced Fanconi syndrome: effects on transport by isolated rat kidney brushborder membrane vesicles. (625187)
1978
49
The pathology of the kidney in the Alport syndrome. (4470885)
1974
50
Nail-Patella syndrome. Light and electron microscopic studies of the kidney. (4682988)
1973

Genetic Variations for Kid Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Kid Syndrome:

63
id Symbol AA change Variation SNP ID
1GJB2p.Gly12ArgVAR_015453
2GJB2p.Ser17PheVAR_015454rs28929485
3GJB2p.Asp50AsnVAR_015456rs28931594
4GJB2p.Asp50TyrVAR_015935

Expression for genes affiliated with Kid Syndrome

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

Sources:
12EMD Millipore, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database
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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
Hide members
9.1GJB2, GJB3
28.0GJB4, GJB6, GJB3, GJB2
38.0GJB2, GJB6, GJB3, GJB4
48.0GJB6, GJB3, GJB2, GJB4
5
Hide members
8.0GJB6, GJB3, GJB2, GJB4

Compounds for genes affiliated with Kid Syndrome

Sources:
60Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Kid Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gap 27608.2GJB4, GJB2, GJB3, GJB6
2scrambled 10panx608.1GJB6, GJB3, GJB2, GJB4
3carbenoxolone disodium608.1GJB4, GJB2, GJB3, GJB6
410panx608.1GJB6, GJB3, GJB2, GJB4
5octanol29 249.0GJB2, GJB4, GJB3, GJB6
6flufenamic acid45 29 2 1111.0GJB6, GJB3, GJB2, GJB4
7carbenoxolone29 45 119.9GJB4, GJB2, GJB3, GJB6
8ca2+297.7GJB3, GJB4, GJB2, GJB6

GO Terms for genes affiliated with Kid Syndrome

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kid Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet