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PROTEIN INTERACTIONS: 1
2 OMIM references -
7 associated genes
8 signs/symptoms
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Congenital fiber-type disproportion myopathy

BTK ACTA1
ELF4 ITGA7
MYL2
PTPLA
SEPN1
TPM2
TPM3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
(0.75)
ACTA1



Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Congenital fiber-type disproportion myopathy

Synonym(s):
(no synonyms)

Synonym(s):
- CFTDM

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Congenital fiber-type disproportion myopathy

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Hypotonia
- Myopathy

Frequent
- Pectus excavatum
- Repeat respiratory infections
- Scoliosis



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

(no data available)