Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

MalaCards integrated aliases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

Name: Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive ⁵⁶ ⁵²

Kid Syndrome, Autosomal Recessive ⁵⁶ ⁵²

Desmons Syndrome ⁵⁶ ⁵²

Ichthyosiform Erythroderma, Corneal Involvement, and Deafness ⁵⁶

Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome ⁶

Ichthyosiform Erythroderma, Corneal Involvement, Deafness ⁵²

Kidar ⁵⁶

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

keratitis-ichthyosis-deafness syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Ear diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 242150

OMIM Phenotypic Series ⁵⁶ PS148210

MedGen ⁴¹ C1275089

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Summaries for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

OMIM : ⁵⁶ Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR) is characterized by neonatal-onset ichthyotic erythroderma and profound sensorineural deafness, with failure to thrive and developmental delay in childhood. Severe corneal scarring with vision loss has been observed in adulthood. Low plasma copper and ceruloplasmin levels have been reported in some patients (Alsaif et al., 2019; Boyden et al., 2019). An autosomal dominant form of KID syndrome (KIDAD; 148210) is caused by mutation in the GJB2 gene (121011) on chromosome 13q12. (242150)

MalaCards based summary : Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive, also known as kid syndrome, autosomal recessive, is related to keratitis-ichthyosis-deafness syndrome, autosomal dominant and branchiootic syndrome 1. An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive is AP1B1 (Adaptor Related Protein Complex 1 Subunit Beta 1). Affiliated tissues include eye and skin, and related phenotypes are intellectual disability and failure to thrive

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Related Diseases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Diseases in the Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant family:

Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Diseases related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	keratitis-ichthyosis-deafness syndrome, autosomal dominant	11.7
2	branchiootic syndrome 1	10.0

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Symptoms & Phenotypes for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Human phenotypes related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

³¹ (show all 14)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	failure to thrive ³¹	HP:0001508
3	short stature ³¹	HP:0004322
4	alopecia ³¹	HP:0001596
5	ichthyosis ³¹	HP:0008064
6	sensorineural hearing impairment ³¹	HP:0000407
7	photophobia ³¹	HP:0000613
8	cirrhosis ³¹	HP:0001394
9	myopia ³¹	HP:0000545
10	decreased lacrimation ³¹	HP:0000633
11	conjunctivitis ³¹	HP:0000509
12	keratoconus ³¹	HP:0000563
13	erythroderma ³¹	HP:0001019
14	fragile nails ³¹	HP:0001808

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Other:
failure to thrive

Skin Nails Hair Hair:
alopecia

Head And Neck Eyes:
photophobia
myopia
conjunctivitis
keratoconus
decreased tearing

Head And Neck Ears:
sensorineural deafness

Skin Nails Hair Nails:
short, fragile nails

Growth Height:
short stature

Skin Nails Hair Skin:
ichthyosis

Abdomen Liver:
cirrhosis
hepatic glycogen storage

Neurologic Central Nervous System:
mental retardation

Clinical features from OMIM:

242150

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Drugs & Therapeutics for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

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Genetic Tests for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

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Anatomical Context for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

⁴⁰

Eye, Skin

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Publications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Articles related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

#	Title	Authors	PMID	Year
1	Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. ⁵⁶ ⁶	Boyden LM...Choate KA	31630788	2019
2	Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. ⁵⁶ ⁶	Alsaif HS...Alkuraya FS	31630791	2019
3	Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. ⁵⁶	Wilson GN...Weinberg AG	1951425	1991
4	Keratitis, ichthyosis, and deafness syndrome with glycogen storage. ⁵⁶	Jurecka W...Jurgensen O	2408586	1985
5	Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia. ⁵⁶	Cremers CW...Mali JW	408455	1977
6	[Dry congenital erythroderma ichthyosiforme, deaf-mutism, and hypetomegaly, of recessive autosome transmission. Study of a family]. ⁵⁶	Desmons F...Chevillard Y	4119872	1971

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Genes for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Genes related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AP1B1	Adaptor Related Protein Complex 1 Subunit Beta 1	Protein Coding	900	Molecular basis known ⁵⁶ Pathogenic ⁶	31630788 31630791

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Variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

ClinVar genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	GRCh37 Pos	GRCh38 Pos
1	AP1B1	NC_000022.10:g.29758984_29815476del	deletion	Pathogenic	805794
2	AP1B1	NM_001127.3(AP1B1):c.38-1G>A	SNV	Pathogenic	805795	22:29759096-29759096	22:29363107-29363107
3	AP1B1	NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg)	SNV	Pathogenic	805796	22:29754810-29754810	22:29358821-29358821
4	AP1B1	NM_001127.3(AP1B1):c.2335del (p.Leu779fs)	deletion	Pathogenic	805797	22:29727880-29727880	22:29331891-29331891
5	AP1B1	NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter)	SNV	Pathogenic	805798	22:29727841-29727841	22:29331852-29331852

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Expression for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Search GEO for disease gene expression data for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive.

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Pathways for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

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GO Terms for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

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Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive (KIDAR)

Aliases & Classifications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

MalaCards integrated aliases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Related Diseases for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Diseases in the Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant family:

Diseases related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Human phenotypes related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Genetic Tests for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Anatomical Context for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

Publications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Articles related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

Genes for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Genes related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive (1 elite genes):

Variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

ClinVar genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

Expression for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Pathways for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

GO Terms for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Sources for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive