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Autosomal recessive limb-girdle muscular dystrophy type 2G
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
5 associated genes
17 signs/symptoms
Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

TCAP
(UniProt - OMIM)
 HESX1
(UniProt - OMIM)
LHX3
(UniProt - OMIM)
LHX4
(UniProt - OMIM)
POU1F1
(UniProt - OMIM)
PROP1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TCAP
(0.63)
LHX4


Citations in the biomedical literature:


Autosomal recessive limb-girdle muscular dystrophy type 2G
TCAP
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
HESX1 LHX3 LHX4 POU1F1 PROP1



Autosomal recessive limb-girdle muscular dystrophy type 2G
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Synonym(s):
- LGMD2G
- Limb girdle muscular dystrophy due to telethonin deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Sleep and vigilance disorders
- Umbilical hernia

Frequent
- Cleft lip and palate
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Septo-optic dysplasia
- Short stature / dwarfism / nanism



Autosomal recessive limb-girdle muscular dystrophy type 2G

(no data available)