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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
13 OMIM references -
11 associated genes
20 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Blackfan-Diamond anemia

BCS1L RPL11
CYC1 RPL15
LYRM7 RPL26
MT-CYB RPL35A
TTC19 RPL5
UQCC2 RPS10
UQCRB RPS17
UQCRC2 RPS19
UQCRQ RPS24
RPS26
RPS7


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UQCRB
UQCRB
(0.49)
(0.49)
RPL11
RPS10



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Blackfan-Diamond anemia
RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
RPS17 RPS19 RPS24 RPS26 RPS7



Isolated CoQ-cytochrome C reductase deficiency
Blackfan-Diamond anemia

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency

Synonym(s):
- Aase syndrome
- Aase-Smith II syndrome
- Congenital PRCA
- Congenital hypoplastic anemia, Blackfan-Diamond type
- Congenital pure red cell aplasia

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
- Rare maxillo-facial surgical disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease

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

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

External references:
6 OMIM references -
No MeSH references
External references:
13 OMIM references -
1 MeSH reference: D029503

Blackfan-Diamond anemia

Very frequent
- Anaemia
- Cardiac rhythm disorder / arrhythmia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Pallor

Frequent
- Anomalies of hands
- Asthenia / fatigue / weakness
- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Facial pain / cephalalgia / migraine
- Late puberty / hypogonadism / hypogenitalism
- Macrocytic anemia
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract

Occasional
- Acute leukemia
- Autosomal recessive inheritance
- Flattened nose
- Neoplasms / tumors
- Short stature / dwarfism / nanism
- Short / small nose
- Thick lips


Isolated CoQ-cytochrome C reductase deficiency

(no data available)