Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hereditary lipodystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary lipodystrophy

MONDO:0020087

Also known as:genetic lipodystrophygenetic lipodystrophy (disease)

Overview

An instance of lipodystrophy that is caused by an inherited genomic modification in an individual.

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.

GeneReviews

Clinical Guidance

PIK3R1-related SHORT syndrome is characterized by characteristic facial features, mild-to-moderate growth deficiency, partial lipodystrophy, insulin resistance, and diabetes by early adulthood. Other frequent features include delayed dentition and other dental issues, Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, and sensorineural hearing loss. To date, a pathogenic variant in PIK3R1 has been identified in 61 affected individuals [, , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports.

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 PIK3R1-related SHORT syndrome have been published.

Suggestive Findings

PIK3R1-related SHORT syndrome should be suspected in probands with the following clinical features and family history.

Clinical features

Characteristic facial features : triangular face, broad forehead, deep-set eyes, narrow nasal tip, thin nasal alae, low-hanging columella, downturned corners of the mouth, chin dimple, and prominent ears

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 hereditary lipodystrophy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for PIK3R1-related SHORT 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 PIK3R1-related SHORT 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 7. PIK3R1-Related SHORT Syndrome: Recommended Surveillance

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 hereditary lipodystrophy.

148 publications have been identified in PubMed for hereditary lipodystrophy. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (18%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	56	38%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98305

GARD

Genetic and Rare Diseases Info Center

GARD:12597

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

GeneReviews

Differential Diagnosis

provides a comparative analysis of genetic disorders with some clinical similarities to PIK3R1-related SHORT syndrome. Table 4. PIK3R1-Related SHORT Syndrome: Differential Diagnosis

Gene(s)/Genetic Mechanism	Disorder	MOI	Features of Disorder
Overlapping w/PIK3R1-related SHORT syndrome	Distinguishing from PIK3R1-related SHORT syndrome Genetic mechanisms incl:abnormal methylation of 11p15.5, upd(7)mat1	Silver-Russell syndrome (SRS)	See footnote 2.
BSCL2	Berardinelli-Seip congenital lipodystrophy (BSCL)	AR	BSCL is usually diagnosed at birth or shortly thereafter; severe BSCL may have prenatal onset w/IUGR.; All children w/neonatal or infantile presentation demonstrate lipoatrophy in 1st yr of life.; Insulin resistance subsequent diabetes mellitus become common in late adolescence early adulthood.
PITX3	Nonsyndromic anterior chamber eye anomalies (OMIM PS107250)	ADAR	Anterior chamber eye anomalies
IGF1R4	Nonsyndromic IUGR5	AD	IUGR, short stature; Glucose intolerance
Alagille syndrome	AD	Ocular dental findings may be similar.; Facial features can be similar (triangular face, broad forehead, deep-set eyes); Postnatal poor weight gain growth deficiency	Liver disease in Alagille syndrome
LMNA	Hutchinson-Gilford progeria syndrome (HGPS)	AD	Micrognathia; Short stature; Absence of subcutaneous fat; Some features of accelerated aging w/disease progression in HGPS are distinct from those in PIK3R1-related SHORT syndrome.
PTPN11	SHORT-like syndrome6	AD	IUGR, short stature; Lipoatrophy; Metabolic abnormalities
SRCAP-related Floating-Harbor syndrome	AD	Low birth weight postnatal growth deficiency; Triangular face, deep-set eyes	Abnormalities of clavicle; Intellectual disability (typically mild to moderate); Expressive language delay
UBR1	Johansson-Blizzard syndrome (OMIM 243800)	AR	IUGR, short stature; Hypoplastic alae nasi; Hypodontia; Hearing loss

Source: GeneReviews — "PIK3R1-Related SHORT Syndrome"

Kisho

hereditary lipodystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Growth deficiency

Diabetes mellitus

Eye manifestations

Dental issues

Hearing loss

Mild speech delay

Cardiac anomalies

Connective tissue differences

Frequent infections

Nephrocalcinosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

hereditary lipodystrophy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Growth deficiency

Diabetes mellitus

Eye manifestations

Dental issues

Hearing loss

Mild speech delay

Cardiac anomalies

Connective tissue differences

Frequent infections

Nephrocalcinosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications