ORPHA:769
Rabson-Mendenhall syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A subtype of <i>INSR</i>-related severe insulin-resistance syndrome characterized by intrauterine and postnatal growth delay, short stature, acanthosis nigricans, dental, hair and nail abnormalities, facial dysmorphism, organomegaly and major hyperinsulinemia with dysglycemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rabson-Mendenhall syndrome | |
| fr | Syndrome de Rabson-Mendenhall | |
| de | Rabson-Mendenhall-Syndrom | |
| es | Síndrome de Rabson-Mendenhall | |
| it | Sindrome di Rabson-Mendenhall | |
| nl | Syndroom van Rabson-Mendenhall | |
| pt | Síndrome Rabson-Mendenhall | |
| pl | Zespół Rabsona i Mendenhalla | |
| cs | Rabsonův-Mendenhallův syndrom | Rabson-Mendenhallův syndrom |
| uk | Синдром Рабсона-Менденхолла | |
| zh | Rabson-Mendenhall综合征 | |
| tr | Rabson-Mendenhall sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262190 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0009874 | E | validated | |
| UMLS | C0271695 | E | validated | |
| GARD | 226 | E | validated | |
| MedDRA | 10088742 | 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 (2):
- 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) (loss of function) in | Assessed | HGNC:6091 | ENSG00000171105 | 147670 | 19p13.2 | insulin receptor | 21869538[PMID]_17201797[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
56 annotations · validated 2020-01-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000678 | Dental crowding | |
| HP:0000958 | Dry skin | |
| HP:0100879 | Enlarged ovaries | |
| HP:0008283 | Fasting hyperinsulinemia | |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0001263 | Global developmental delay | |
| HP:0001007 | Hirsutism | |
| HP:0000998 | Hypertrichosis | |
| HP:0030796 | Increased C-peptide level | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0000855 | Insulin resistance | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0031452 | Lichenoid skin lesion | |
| HP:0000040 | Long penis | |
| HP:0012542 | Onychauxis | |
| HP:0011998 | Postprandial hyperglycemia | |
| HP:0002719 | Recurrent infections | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0004322 | Short stature | |
| HP:0100874 | Thick hair | |
| Occasional (29-5%) | ||
| HP:0006288 | Advanced eruption of teeth | |
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0007305 | CNS demyelination | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000280 | Coarse facial features | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001953 | Diabetic ketoacidosis | |
| HP:0000221 | Furrowed tongue | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000218 | High palate | |
| HP:0002900 | Hypokalemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0040270 | Impaired glucose tolerance | |
| HP:0012686 | Increased pineal volume | |
| HP:0000294 | Low anterior hairline | |
| HP:0000158 | Macroglossia | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0010442 | Polydactyly | |
| HP:0001959 | Polydipsia | |
| HP:0000826 | Precocious puberty | |
| HP:0002216 | Premature graying of hair | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000488 | Retinopathy | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000445 | Wide nose | |
Annotation source: 29369573[PMID]_29082893[PMID]_25484423[PMID]_28663160[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/769
- This record as JSON: /data/d/769.json