KIDAR
MCID: KRT078
MIFTS: 27

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

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 73
Kid Syndrome, Autosomal Recessive 56 52 73
Desmons Syndrome 56 52 73
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 56 73
Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome 29 6
Kidar 56 73
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 52

Characteristics:

OMIM:

56
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:



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 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 skin, bone marrow and bone, and related phenotypes are intellectual disability and sensorineural hearing impairment

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.

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

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 Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 sensorineural hearing impairment 31 HP:0000407
3 short stature 31 HP:0004322
4 ichthyosis 31 HP:0008064
5 photophobia 31 HP:0000613
6 failure to thrive 31 HP:0001508
7 cirrhosis 31 HP:0001394
8 myopia 31 HP:0000545
9 alopecia 31 HP:0001596
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:

56
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

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


photophobia

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

Search Clinical Trials , NIH Clinical Center 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:

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

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

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

40
Skin, Bone Marrow, Bone, Tongue

Publications for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

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

# Title Authors PMID Year
1
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. 6 56
31630791 2019
2
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia. 6 56
31630788 2019
3
Keratitis, hepatitis, ichthyosis, and deafness: report and review of KID syndrome. 56
1951425 1991
4
Keratitis, ichthyosis, and deafness syndrome with glycogen storage. 56
2408586 1985
5
Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia. 56
408455 1977
6
[Dry congenital erythroderma ichthyosiforme, deaf-mutism, and hypetomegaly, of recessive autosome transmission. Study of a family]. 56
4119872 1971

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 NC_000022.10:g.29758984_29815476deldeletion Pathogenic 805794
2 AP1B1 NM_001127.3(AP1B1):c.38-1G>ASNV 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

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

Expression for Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive

Search GEO for disease gene expression data 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

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70 Tocris
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72 UMLS via Orphanet
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