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ciliopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ciliopathy

MONDO:0005308

Also known as:ciliopathies

Overview

A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.

OnsetCONGENITAL

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.

No HPO annotations are available for this condition.

Age of onset: at birth.

GeneReviews

Clinical Guidance

The first clinical manifestation of Alstrm syndrome is usually nystagmus caused by cone-rod dystrophy and/or infantile-onset cardiomyopathy. Later-onset findings include obesity that manifests during the first years of life, progressive sensorineural hearing loss (SNHL), insulin resistance / T2DM, adolescent- or adult-onset restrictive cardiomyopathy, hepatic steatosis, and progressive renal dysfunction. Wide clinical variability is observed among individuals with Alstrm syndrome, including among sibs . Table 3. Age of Onset and Incidence of Common Features of Alstrm Syndrome

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

Suggestive Findings

Alstrm syndrome should be suspected in individuals with the following clinical findings that evolve as affected individuals age :

Source: GeneReviews — "Alstrm Syndrome"

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 ciliopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Alstrm syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Alstrm Syndrome

Prognosis

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

GeneReviews

Surveillance Guidelines

A suggested plan for annual evaluations for patients with Alstrm syndrome may be found at www.alstrom.org.uk . Table 6. Recommended Surveillance for Individuals with Alstrm Syndrome

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ciliopathy.

300 publications have been identified in PubMed for ciliopathy. Research spans Basic Science / Preclinical (48%), Review / Meta-Analysis (22%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Laboratory research	144	48%

Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 2:18 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:363250

GARD

Genetic and Rare Diseases Info Center

GARD:21544

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Feature	Age of Onset Range (Mean)	Incidence1
Cone-rod dystrophy	Birth - 15 mos (5 mos)2	100%
Obesity	Birth - 5 years (2.5 yrs)	98%
Progressive SNHL	2-25 yrs (9 yrs)	88%
Cardiomyopathy	Infantile	2 wks - 4 mos
Restrictive	Juvenile - late 30s	18%
Insulin resistance / T2DM	4-30 yrs / 8-40 yrs (16 yrs)	92% / 68%
Short stature	Puberty - adult	98%
Hypogonadism (central or primary)	10+ yrs	78% of males
Urologic disease (bladder dysfunction)	Adolescence - adult	48%
Progressive renal disease	Adolescence - adult	Variably progressive in all individuals
Hepatic disease	8-30 yrs	23%-100% Based on a study of 182 patients by SNHL = sensorineural hearing loss; T2DM = type 2 diabetes mellitus Given the age-dependent nature of many features of Alstrm syndrome, percentages are not exact and may be underestimates. 2.

Differential Diagnosis

Polydactyly, cognitive impairment, and structural heart and genitourinary defects are not typical in Alstrm syndrome; these features should prompt evaluation for alternative diagnosis such as Bardet-Biedl syndrome . Table 4. Disorders to Consider in the Differential Diagnosis of Alstrm Syndrome

Disorder	Gene(s)	MOI	Clinical Features
Overlapping w/Alstrm syndrome	Distinguishing from Alstrm syndrome (AS) Bardet-Biedl syndrome (BBS)	21 genes1	AR2
PDE6H	AR	Infantile nystagmus; Photophobia; Severely visual acuity; Poor or no color discrimination	Only the retina is affected in ACH.3 Retinal findings:; Common in ACH; not reported in AS: central outer retinal atrophy/cavitation; Common in AS; less common in ACH: retention of central inner retinal layers (foveal immaturity) Absent in ACH:
Cardiomyopathy, obesity, SNHL, T2DM, liver disease, renal dysfunction Leber congenital amaurosis / early-onset severe retinal dystrophy (LCA/EOSRD)	30 genes4	ARAD	Retinal degeneration; visual acuity; Onset typically in 1st yr of life; Nystagmus; Photophobia
Characteristic oculo-digital sign (repeated eye rubbing, poking, pressing of eyes) in LCA/EOSRD Early-onset dilated cardiomyopathy (DCM) (See Dilated Cardiomyopathy Overview.)	25	Dilated cardiomyopathy; Renal dysfunction (in syndromic forms due to mt defect)	—
Skeletal muscle disease w/ creatine kinase in most syndromic forms of DCM (not observed in AS) Mitochondrial disorders5	See footnote 5.	ARADMat	Cardiomyopathy; Sensorineural deafness; Optic atrophy; Pigmentary retinopathy; Diabetes mellitus

Source: GeneReviews — "Alstrm Syndrome"

Kisho

ciliopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

ciliopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications