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ichthyosiform erythroderma, corneal involvement, and hearing loss - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosiform erythroderma, corneal involvement, and hearing loss

MONDO:0009440

Also known as:ichthyosiform erythroderma, corneal involvement, and deafnessDesmons syndromeKID syndrome, autosomal recessive

Overview

GeneticsAutosomal recessive · AP1B1 (chr 22)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased serum bile acid concentration, Sparse hair, Intellectual disability, and Decreased circulating ceruloplasmin concentration and others; and common findings: Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Brain shrinkage (cerebral atrophy), and Palmoplantar keratoderma. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	4

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AP1B1 encodes adaptor related protein complex 1 subunit beta 1 (949 aa). Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. Highest expression in Spleen (105.1 TPM) and Esophagus Mucosa (89.0 TPM).

Ichthyosiform erythroderma, corneal involvement, and hearing loss is caused by mutations in the AP1B1 gene on chromosome 22.

AP1B1 is classified as a druggable target with score 52.2.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for IDEDNIK syndrome have been published.

Suggestive Findings

IDEDNIK syndrome should be suspected in probands with the following clinical, laboratory, histopathology, and imaging findings and family history.

Clinical findings

Infantile-onset diarrhea

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for ichthyosiform erythroderma, corneal involvement, and hearing loss. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for IDEDNIK syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with IDEDNIK syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. IDEDNIK Syndrome: Recommended Surveillance

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:242150

GARD

Genetic and Rare Diseases Info Center

GARD:2946

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Clinical Guidance

IDEDNIK syndrome is characterized by enteropathy, growth deficiency, skin manifestations (ichthyosis, erythroderma, and keratoderma), sparse hair, global developmental delay, mild-to-severe intellectual disability, and deafness. Additional manifestations can include liver disease, recurrent infections, and hematologic and ocular manifestations. To date, 24 individuals have been diagnosed with IDEDNIK syndrome – ten individuals with AP1B1-related IDEDNIK syndrome [, , , , , , ] and 14 individuals with AP1S1-related IDEDNIK syndrome [, , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. IDEDNIK Syndrome: Frequency of Select Features Feature | Proportion of Persons w/Feature1 AP1B1-related IDEDNIK syndrome(n=10) | AP1S1-related IDEDNIK syndrome(n=14) GI manifestations/ poor growth

Infantile-onset diarrhea	3/3	14/14
Poor weight gain	8/8	5/5
Growth deficiency	8/8	7/7
Skin hair manifestations	Ichthyosis	10/10
Erythroderma	9/10	6/7
Hyperkeratosis	8/10	6/7
Sparse hair	8/10	1/1
Alopecia	4/7	NR
Development/ neurologic manifestations	Global developmental delay	10/10
Hypotonia	2/2	6/6
Sensorineural hearing loss	10/10	8/8
Intellectual disability	4/9	8/8
Peripheral neuropathy	NR	3/6
Seizures	1/1	2/2
Cerebral atrophy	2/5	6/6
Basal ganglia abnormalities	NR	3/6
Thin corpus callosum	3/5	NR
Liver manifestations	Hepatopathy2	3/4
Hepatomegaly	2/3	1/1
Elevated transaminases	4/6	8/8
Elevated total bile acid levels	1/2	4/4
Immune system/ hematologic manifestations	Recurrent infections	6/6
Anemia	2/4	1/1
Thrombocytopenia	3/6	1/1
Ocular manifestations	Photophobia	6/7
Corneal scarring	3/5	NR
Keratitis	2/4	NR
Laboratory findings	Reduced ceruloplasmin	6/8
Reduced total serum copper	6/8	6/6 NR = not reported Because limited clinical details are available for some reported individuals included in this table, the denominator represents the total number of individuals in whom the corresponding finding was reported. 2. Enteropathy.

Source: GeneReviews — "IDEDNIK Syndrome"

GeneReviews

Differential Diagnosis

IDEDNIK syndrome presents a combination of clinical and biochemical signs overlapping several disorders, including Menkes disease and Wilson disease . Table 3. Genes of Interest in the Differential Diagnosis of IDEDNIK Syndrome

Gene	Disorder	MOI	Features of Disorder
ATP7A	Menkes disease (See ATP7A-Related Copper Transport Disorders.)	XL	Low serum copper ceruloplasmin concentrations; growth deficiency, sparse hair, hypotonia, ID, seizures
Wilson disease	AR	Low serum ceruloplasmin concentration, high liver copper concentration; hepatomegaly, hepatic cirrhosis, anemia	Kayser-Fleischer rings, renal tubular dysfunction, osteoporosis, tremor, dementia, drooling CP
Aceruloplasminemia	AR	serum copper, serum ceruloplasmin	Iron deposition in liver, pancreas, basal ganglia, thalamus, cerebellum; diabetes mellitus SLC33A1
Huppke-Brendel syndrome	AR	serum copper, serum ceruloplasmin; hearing loss, sparse hair, hypotonia, ID	Lack of GI manifestations assoc w/IDEDNIK syndrome
SNAP29	CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma) syndrome (OMIM 609528)	AR	Ichthyosis, keratoderma, poor growth, sensorineural hearing loss, peripheral neuropathy, DD/ID

Source: GeneReviews — "IDEDNIK Syndrome"

Kisho

ichthyosiform erythroderma, corneal involvement, and hearing loss

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

General

GI/ Feeding/ Nutrition

Integument

Development

Musculoskeletal

Hearing

Neurologic

Therapies Under Investigation

Clinical Trials

ichthyosiform erythroderma, corneal involvement, and hearing loss

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

General

GI/ Feeding/ Nutrition

Integument

Development

Musculoskeletal

Hearing

Neurologic

Therapies Under Investigation

Clinical Trials