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PROTEIN INTERACTIONS: 1
1 OMIM reference -
25 associated genes
1 sign/symptom
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Isolated NADH-CoQ reductase deficiency

BTK ACAD9
ELF4 FOXRED1
MT-ND2
MTFMT
NDUFA1
NDUFA11
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NUBPL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BTK
(0.68)
NDUFS1



Citations in the biomedical literature:


Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
BTK ELF4
Isolated NADH-CoQ reductase deficiency
ACAD9 FOXRED1 MT-ND2 MTFMT NDUFA1 NDUFA11
NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4
NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3
NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2
NUBPL



Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Isolated NADH-CoQ reductase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Isolated NADH-coenzyme Q reductase deficiency
- Isolated NADH-ubiquinone reductase deficiency
- Isolated mitochondrial respiratory chain complex I deficiency

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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:
(no data available)

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

Isolated NADH-CoQ reductase deficiency

Very frequent
- Organic acid metabolism anomalies



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

(no data available)