ORPHA:508
Donohue syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A subtype of <i>INSR</i>-related severe insulin resistance characterized by severe intrauterine growth retardation, postnatal failure to thrive, dysmorphic features, extreme insulin resistance, fluctuating blood glucose levels. The life expectancy is very short, with death usually occurring during infancy due to metabolic complications, cardiomyopathy and/or infections.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Donohue syndrome | |
| fr | Syndrome de Donohue | |
| de | Donohue-Syndrom | |
| es | Síndrome de Donohue | |
| it | Sindrome di Donohue | |
| nl | Syndroom van Donohue | Leprechaunisme |
| pt | Leprechaunismo | Síndrome Donohue |
| pl | Leprechaunizm | Zespół Donohue |
| cs | Leprechaunismus | Donohueova nemoc |
| uk | Лепреконізм | Синдром Донохью |
| zh | 矮妖综合征 | Donohue综合征 |
| tr | Leprekonizm | Donohue sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246200 | E | validated | |
| ICD-10 | E34.8 | NTBT | index | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0009517 | E | validated | |
| MeSH | D056731 | E | validated | |
| UMLS | C0265344 | E | validated | |
| GARD | 6885 | E | validated | |
| MedDRA | 10081896 | 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 (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| INSR | Disease-causing germline mutation(s) in | Assessed | HGNC:6091 | ENSG00000171105 | 147670 | 19p13.2 | insulin receptor | 12023989[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | — | Europe | Class only | Validated | 9128805[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0006 / 100 000 | Worldwide | Value and class | Validated | 38773407[PMID]_ORPHANET |
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
47 annotations · validated 2020-02-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003162 | Fasting hypoglycemia | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000998 | Hypertrichosis | |
| HP:0000855 | Insulin resistance | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0011998 | Postprandial hyperglycemia | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| HP:0008846 | Severe intrauterine growth retardation | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0004325 | Decreased body weight | |
| HP:0000105 | Enlarged kidney | |
| HP:0002219 | Facial hypertrichosis | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001249 | Intellectual disability | |
| HP:0000065 | Labial hypertrophy | |
| HP:0000040 | Long penis | |
| HP:0003247 | Overgrowth of external genitalia | |
| HP:0004405 | Prominent nipples | |
| HP:0004914 | Recurrent infantile hypoglycemia | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0011787 | Central hypothyroidism | |
| HP:0100879 | Enlarged ovaries | |
| HP:0002150 | Hypercalciuria | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000316 | Hypertelorism | |
| HP:0002900 | Hypokalemia | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| HP:0000848 | Increased circulating renin level | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0000369 | Low-set ears | |
| HP:0025024 | Megarectum | |
| HP:0000252 | Microcephaly | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000307 | Pointed chin | |
| HP:0000411 | Protruding ear | |
| HP:0002035 | Rectal prolapse | |
| HP:0012471 | Thick vermilion border | |
| HP:0001072 | Thickened skin | |
| HP:0000445 | Wide nose | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 29369573[PMID]_31840185[PMID]_29148123[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508
- This record as JSON: /data/d/508.json