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2 OMIM references -
2 associated genes
26 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
9 signs/symptoms
Autosomal dominant hypocalcemia
Cystic fibrosis

CASR CFTR
GNA11 CLCA4
DCTN4
STX1A
TGFB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GNA11
(0.72)
CFTR



Citations in the biomedical literature:


Autosomal dominant hypocalcemia
CASR GNA11
Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1



Autosomal dominant hypocalcemia
Cystic fibrosis

Synonym(s):
- AD hypocalcemia

Synonym(s):
- CF
- Mucoviscidosis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
- Rare infertility
- Rare respiratory disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D003550

Autosomal dominant hypocalcemia
Cystic fibrosis

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Asthenia / fatigue / weakness
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypercalciuria
- Hypocalcemia
- Myoclonus / fasciculations
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / behavioural troubles

Frequent
- Abnormal fingernails
- Acute abdominal pain / colic
- Alopecia
- Cardiac rhythm disorder / arrhythmia
- Dry / squaly skin / exfoliation
- Hyperphosphtemia
- Hypotension
- Nails anomalies
- Respiratory rhythm disorder
- Urinary / renal lithiasis / kidney stones / nephritic colic

Occasional
- Cranial hypertension
- Eczema
- Heart / cardiac failure
- Irregular / in bands / reticular skin hyperpigmentation
- Obnubilation / coma / lethargia / desorientation
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Repeat respiratory infections
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas

Occasional
- Hepatomegaly / liver enlargement (excluding storage disease)