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1 OMIM reference -
1 associated gene
27 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
3 signs/symptoms
Rabson-Mendenhall syndrome
Catecholaminergic polymorphic ventricular tachycardia

INSR CALM1
CASQ2
RYR2
TRDN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
INSR
(0.65)
CALM1



Citations in the biomedical literature:


Rabson-Mendenhall syndrome
INSR
Catecholaminergic polymorphic ventricular tachycardia
CALM1 CASQ2 RYR2 TRDN



Rabson-Mendenhall syndrome
Catecholaminergic polymorphic ventricular tachycardia

Synonym(s):
(no synonyms)

Synonym(s):
- Bidirectional tachycardia
- Bidirectional tachycardia induced by catecholamine
- CPVT
- Double tachycardia induced by catecholamines
- Malignant paroxysmal ventricular tachycardia
- Multifocal ventricular premature beats
- Paroxysmal ventricular fibrillation
- Syncopal paroxysmal tachycardia
- Syncopal tachyarythmia

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D056731
External references:
5 OMIM references -
No MeSH references

Rabson-Mendenhall syndrome
Catecholaminergic polymorphic ventricular tachycardia

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


Very frequent
- Cardiac rhythm disorder / arrhythmia

Frequent
- Dizziness

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest