Lipodystrophy due to peptidic growth factors deficiency
disease diseaseOn this page
Also known as combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiencyHoepffner Dreyer Reimers syndromeHoepffner-Dreyer-Reimers syndromepeptide growth factors deficiencypeptidic growth factors deficiencyWerner-like syndrome due to combined growth factor deficiency
Summary
Lipodystrophy due to peptidic growth factors deficiency (MONDO:0009312) is a disease. A subtype of hereditary lipodystrophy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 28
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 1 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
28 HPO clinical features (Orphanet curated; top 28 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (80-99%) |
| HP:0000271 | Abnormality of the face | Very frequent (80-99%) |
| HP:0000347 | Micrognathia | Very frequent (80-99%) |
| HP:0000444 | Convex nasal ridge | Very frequent (80-99%) |
| HP:0000767 | Pectus excavatum | Very frequent (80-99%) |
| HP:0000982 | Palmoplantar keratoderma | Very frequent (80-99%) |
| HP:0001072 | Thickened skin | Very frequent (80-99%) |
| HP:0001371 | Flexion contracture | Very frequent (80-99%) |
| HP:0001387 | Joint stiffness | Very frequent (80-99%) |
| HP:0001763 | Pes planus | Very frequent (80-99%) |
| HP:0001824 | Weight loss | Very frequent (80-99%) |
| HP:0003758 | Reduced subcutaneous adipose tissue | Very frequent (80-99%) |
| HP:0004326 | Cachexia | Very frequent (80-99%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Very frequent (80-99%) |
| HP:0009125 | Lipodystrophy | Very frequent (80-99%) |
| HP:0100578 | Lipoatrophy | Very frequent (80-99%) |
| HP:0100679 | Lack of skin elasticity | Very frequent (80-99%) |
| HP:0000765 | Abnormal thorax morphology | Frequent (30-79%) |
| HP:0001000 | Abnormality of skin pigmentation | Frequent (30-79%) |
| HP:0001595 | Abnormality of the hair | Frequent (30-79%) |
| HP:0002216 | Premature graying of hair | Frequent (30-79%) |
| HP:0002621 | Atherosclerosis | Frequent (30-79%) |
| HP:0002814 | Abnormality of the lower limb | Frequent (30-79%) |
| HP:0002817 | Abnormality of the upper limb | Frequent (30-79%) |
| HP:0003119 | Abnormal circulating lipid concentration | Frequent (30-79%) |
| HP:0004349 | Reduced bone mineral density | Frequent (30-79%) |
| HP:0010980 | Hyperlipoproteinemia | Frequent (30-79%) |
| HP:0100651 | Type I diabetes mellitus | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lipodystrophy due to peptidic growth factors deficiency |
| Mondo ID | MONDO:0009312 |
| MeSH | C565529 |
| OMIM | 233805 |
| Orphanet | 1979 |
| ICD-11 | 1235390174 |
| SNOMED CT | 724176001 |
| UMLS | C2931279 |
| MedGen | 419375 |
| GARD | 0012604 |
| Is cancer (heuristic) | no |
Also known as: combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner Dreyer Reimers syndrome · Hoepffner-Dreyer-Reimers syndrome · peptide growth factors deficiency · peptidic growth factors deficiency · Werner-like syndrome due to combined growth factor deficiency
Disease family
This is a subtype of hereditary lipodystrophy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › lipodystrophy › hereditary lipodystrophy › lipodystrophy due to peptidic growth factors deficiency
Related subtypes (10): congenital generalized lipodystrophy, Wiedemann-Rautenstrauch syndrome, SHORT syndrome, lipodystrophy-intellectual disability-deafness syndrome, Keppen-Lubinsky syndrome, severe neurodegenerative syndrome with lipodystrophy, lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy, mandibuloacral dysplasia, Berardinelli-Seip congenital lipodystrophy, familial partial lipodystrophy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.