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 ⁵⁷ ²⁰ ⁷³

Kid Syndrome, Autosomal Recessive ⁵⁷ ²⁰ ⁷³

Desmons Syndrome ⁵⁷ ²⁰ ⁷³

Ichthyosiform Erythroderma, Corneal Involvement, and Deafness ⁵⁷ ⁷³

Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome ²⁹ ⁶

Kidar ⁵⁷ ⁷³

Ichthyosiform Erythroderma, Corneal Involvement, Deafness ²⁰

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 adult patient and 4 children under the age of 6 years (last curated january 2020)

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® ⁵⁷ 242150

OMIM Phenotypic Series ⁵⁷ PS148210

MeSH ⁴⁴ D003638 D007057 D007634

MedGen ⁴¹ C1275089

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Summaries for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

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 keratitis, hereditary, and has symptoms including photophobia An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive is AP1B1 (Adaptor Related Protein Complex 1 Subunit Beta 1). Affiliated tissues include bone marrow, bone and tongue, and related phenotypes are intellectual disability and failure to thrive

UniProtKB/Swiss-Prot : ⁷³ Keratitis-ichthyosis-deafness syndrome, autosomal recessive: An autosomal recessive form of keratitis-ichthyosis-deafness syndrome, a disease characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. KIDAR patients manifest ichthyosis, failure to thrive and developmental delay in childhood, thrombocytopenia, photophobia, and progressive hearing loss. Low plasma copper and ceruloplasmin levels have been reported in some patients.

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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
1	keratitis-ichthyosis-deafness syndrome, autosomal dominant	11.1
2	keratitis, hereditary	9.9
3	branchiootic syndrome 1	9.9
4	ichthyosis	9.9

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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	sensorineural hearing impairment ³¹	HP:0000407
4	short stature ³¹	HP:0004322
5	ichthyosis ³¹	HP:0008064
6	photophobia ³¹	HP:0000613
7	myopia ³¹	HP:0000545
8	alopecia ³¹	HP:0001596
9	cirrhosis ³¹	HP:0001394
10	conjunctivitis ³¹	HP:0000509
11	keratoconus ³¹	HP:0000563
12	erythroderma ³¹	HP:0001019
13	fragile nails ³¹	HP:0001808
14	decreased lacrimation ³¹	HP:0000633

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
intellectual disability
global developmental delay
developmental delay
cerebral atrophy (in some patients)
thin corpus callosum (in some patients)

Head And Neck Face:
frontal bossing
high anterior hairline

Skin Nails Hair Hair:
sparse hair
wiry hair texture (in some patients)
thick yellow plate-like scale on scalp

Head And Neck Teeth:
poorly calcified teeth
tooth loss (in an adult patient)

Head And Neck Mouth:
gingival destruction (in an adult patient)
fissured tongue (in an adult patient)

Abdomen Gastrointestinal:
enteropathy (in some patients)
villus blunting, mild, seen on duodenal biopsy
hyperplasia of duodenal crypt epithelium, mild
cytoplasmic vacuolation of duodenal surface epithelium

Skin Nails Hair Skin Electron Microscopy:
large intracytoplasmic vesicles

Laboratory Abnormalities:
low serum copper
low ceruloplasmin levels
low plasma zinc
elevated alanine aminotransferase (in some patients)
elevated gamma-glutamyl transferase (in some patients)
more

Growth Other:
failure to thrive

Skin Nails Hair Skin:
erythroderma
palmoplantar keratoderma, mild
ichthyosis, generalized
fine whitish scaling
thick white plaque-like scales (in some patients)
more

Head And Neck Eyes:
photophobia (in some patients)
ectropion (in some patients)
corneal scarring, severe (in an adult patient)
sparse or absent eyebrows

Head And Neck Ears:
hearing loss, sensorineural, bilateral profound

Abdomen Liver:
hepatopathy, mild persistent (in some patients)
hepatomegaly (uncommon)

Skin Nails Hair Skin Histology:
compact hyperkeratosis
focal separation of keratinocytes above the basal layer
increased numbers of basophilic vesicles in proliferative layers of epidermis

Hematology:
thrombocytopenia, mild to moderate, episodic or persistent
dysmegakaryopoeisis on bone marrow biopsy
anemia (uncommon)

Clinical features from OMIM®:

242150 (Updated 05-Mar-2021)

UMLS symptoms related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

photophobia

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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

Genetic tests related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome ²⁹	AP1B1

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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

Bone Marrow, Bone, Tongue

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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. ⁶ ⁵⁷	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. ⁶ ⁵⁷	Alsaif HS...Alkuraya FS	31630791	2019
3	Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. ⁵⁷	Wilson GN...Weinberg AG	1951425	1991
4	Keratitis, ichthyosis, and deafness syndrome with glycogen storage. ⁵⁷	Jurecka W...Jurgensen O	2408586	1985
5	Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia. ⁵⁷	Cremers CW...Mali JW	408455	1977
6	[Dry congenital erythroderma ichthyosiforme, deaf-mutism, and hypetomegaly, of recessive autosome transmission. Study of a family]. ⁵⁷	Desmons F...Chevillard Y	4119872	1971
7	Identification of compound heterozygous mutations in AP1B1 leading to the newly-described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome. ⁶¹	Vornweg J...Fischer J	33452671	2021
8	English-Learning Infants' Representations of Word Forms With Iambic Stress. ⁶¹	Johnson EK	33430538	2005

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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	PubMed IDs
1	AP1B1	Adaptor Related Protein Complex 1 Subunit Beta 1	Protein Coding	1317.3	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	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	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	AP1B1	NM_001127.3(AP1B1):c.2335del (p.Leu779fs)	Deletion	Pathogenic	805797	rs1602683532	22:29727880-29727880	22:29331891-29331891
2	AP1B1	NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter)	SNV	Pathogenic	805798	rs780548317	22:29727841-29727841	22:29331852-29331852
3	AP1B1	NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg)	SNV	Pathogenic	805796	rs1602749299	22:29754810-29754810	22:29358821-29358821
4	AP1B1	NM_001127.3(AP1B1):c.38-1G>A	SNV	Pathogenic	805795	rs1602761438	22:29759096-29759096	22:29363107-29363107
5	AP1B1	NC_000022.10:g.29758984_29815476del	Deletion	Pathogenic	805794

UniProtKB/Swiss-Prot genetic disease variations for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	AP1B1	p.Cys144Arg	VAR_083524

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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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Sources for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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®:

UMLS symptoms related to Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive:

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

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

Genetic tests related to 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:

UniProtKB/Swiss-Prot 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