ORPHA:1979
Lipodystrophy due to peptidic growth factors deficiency
Synonyms: Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome · Werner-like syndrome due to combined growth factor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare genetic lipodystrophy characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipodystrophy due to peptidic growth factors deficiency | Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency · Hoepffner-Dreyer-Reimers syndrome · Werner-like syndrome due to combined growth factor deficiency |
| fr | Lipodystrophie par déficit en facteurs de croissance peptidiques | Déficit combiné en insuline, facteur de croissance IGF1, facteur de croissance épidermique EGF · Syndrome de Hoepffner-Dreyer-Reimers · Syndrome de type Werner par déficit en facteurs de croissance |
| de | Lipodystrophie durch peptidischen Wachstumsfaktormangel | Hoepffner-Dreyer-Reimers-Syndrom · Kombinierter Mangel an Insulin, IGF1 (insulin-like growth factor 1) und EGF (epidermal growth factor) · Werner-ähnliches Syndrom durch kombinierten Wachstumsfaktormangel |
| es | Lipodistrofia por deficiencia de factores de crecimiento peptídicos | Deficiencia combinada de insulina, factor de crecimiento insulímico tipo 1 (IGF1) y factor de crecimiento epidérmico (EGF) · Síndrome de Hoepffner-Dreyer-Reimers · Síndrome tipo Werner por deficiencia combinada de factores de crecimiento |
| it | Lipodistrofia da deficit dei fattori di crescita peptidici | Deficit combinato dell'insulina, del fattore di crescita epidermico (EGF) e del fattore 1 di crescita insulino-simile (IGF1) · Sindrome Werner-simile da deficit combinato dei fattori di crescita · Sindrome di Hoepffner-Dreyer-Reimers |
| nl | Lipodystrofie door deficiëntie van peptidische groeifactoren | Gecombineerde deficiëntie van insuline, insulineachtige groeifactor 1 (IGF1) en epidermale groeifactor (EGF) · Syndroom van Hoepffner-Dreyer-Reimers · Werner-achtig syndroom door gecombineerde deficiëntie van groeifactoren |
| pt | Lipodistrofia devida a deficiência de fatores de crecimento peptídicos | Síndrome Hoepffner-Dreyer-Reimers |
| pl | Lipodystrofia z powodu niedoboru peptydowego czynnika wzrostu | Mieszany Niedobór insuliny, insulinopodobnego czynnika wzrostu (IGF1) i czynnika wzrostu naskórka (EGF) · Zespół Hoepffnera, Dreyera i Reimersa · Zespół podobny do zespołu Wernera spowodowany mieszanym niedoborem czynnika wzrostu |
| cs | Lipodystrofie způsobená deficitem peptidových růstových faktorů | Kombinovaný deficit inzulinu, růstového faktoru 1 podobného inzulinu (IGF1) a epidermálního růstového faktoru (EGF) · Hoepffnerův-Dreyerův-Reimersův syndrom · Syndrom podobný Wernerovu způsobený kombinovaným deficitem růstového faktoru · Hoepffner-Dreyer-Reimersův syndrom |
| uk | Ліподистрофія внаслідок дефіциту пептидних факторів росту | Комбінований дефіцит інсуліну, інсуліноподібного фактора росту 1 (IGF1) та епідермального фактора росту (EGF) · Синдром Гепфнера-Дрейєра-Реймерса · Синдром Вернера внаслідок комбінованого дефіциту фактора росту |
| zh | 肽生长因子缺乏所致脂质营养不良 | 胰岛素、胰岛素样生长因子1（IGF1）和表皮生长因子（EGF）联合缺乏 |
| tr | Peptit büyüme faktörleri eksikliğine bağlı lipodistrofi | Hoepffner-Dreyer-Reimers sendromu · Kombine büyüme faktörü eksikliğine bağlı Werner benzeri sendrom · Kombine insülin, insülin benzeri büyüme faktörü 1 (IGF1) ve epidermal büyüme faktörü (EGF) eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 233805 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | LD27.6Z | NTBT | index | validated |
| MONDO | 0009312 | E | validated | |
| UMLS | C2931279 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 2477323[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2477323[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0004326 | Cachexia | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001371 | Flexion contracture | |
| HP:0001387 | Joint stiffness | |
| HP:0100679 | Lack of skin elasticity | |
| HP:0100578 | Lipoatrophy | |
| HP:0009125 | Lipodystrophy | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| HP:0001072 | Thickened skin | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0003119 | Abnormal circulating lipid concentration | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001595 | Abnormality of the hair | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0002621 | Atherosclerosis | |
| HP:0010980 | Hyperlipoproteinemia | |
| HP:0002216 | Premature graying of hair | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1979
- This record as JSON: /data/d/1979.json