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Rabson-Mendenhall syndrome

1 OMIM reference -
1 associated gene
70 connected diseases
27 signs/symptoms

Disease	Type of connection
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Noonan syndrome
Distal 22q11.2 microdeletion syndrome
Romano-Ward syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Autoimmune lymphoproliferative syndrome
Autosomal recessive hypophosphatemic rickets
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Generalized arterial calcification of infancy
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Metachondromatosis
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Acute promyelocytic leukemia
Laron syndrome with immunodeficiency
Budd-Chiari syndrome
Essential thrombocythemia
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Opsismodysplasia
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
T-B+ severe combined immunodeficiency due to CD45 deficiency
Costello syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Catecholaminergic polymorphic ventricular tachycardia
1p36 deletion syndrome
Amyotrophic lateral sclerosis
Autosomal recessive malignant osteopetrosis
Cherubism
Congenital stromal corneal dystrophy
Frontotemporal dementia with motor neuron disease
Generalized epilepsy with febrile seizures-plus context
Growth delay due to insulin-like growth factor type 1 deficiency
Helicoid peripapillary chorioretinal degeneration
Juvenile amyotrophic lateral sclerosis
Juvenile myoclonic epilepsy
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Postsynaptic congenital myasthenic syndromes
MODY syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Permanent neonatal diabetes mellitus
Autosomal dominant limb-girdle muscular dystrophy type 1C
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Growth delay due to insulin-like growth factor I resistance
Hemihypertrophy
Pilocytic astrocytoma
Rippling muscle disease
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to imprinting defect of 11p15

Synonym(s): (no synonyms)

Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - 1 MeSH reference: D056731

Gene symbol	UniProt reference	OMIM reference
INSR	P06213	147670

Very frequent

- Acanthosis nigricans
- Acromegaly
- Anomalies of teeth and dentition
- Anomalies of the abdominal wall
- Autosomal dominant inheritance
- Coarse face
- Diabetes mellitus
- Dysplastic / thick / grooved fingernails
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Lanugo
- Macropenis / megapenis / large penis
- Premature eruption of teeth / natal teeth
- Prognathism / prognathia

Frequent

- Coarse / thick hair
- Dry / squaly skin / exfoliation
- Peripheral neuropathy
- Precocious puberty
- Premature ageing
- Proteinuria
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Thick skin / pachydermia / orange skin
- Thyroid anomalies

Occasional

- Abnormal / polycystic ovaries
- Megaureter / hydronephrosis / pyeloureteral junction syndrome