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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
X-linked distal arthrogryposis multiplex congenita

BCS1L UBA1
CYC1
LYRM7
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TTC19
(0.63)
UBA1



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
X-linked distal arthrogryposis multiplex congenita
UBA1



Isolated CoQ-cytochrome C reductase deficiency
X-linked distal arthrogryposis multiplex congenita

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

Synonym(s):
- SMAX2
- Spinal muscular atrophy with arthrogryposis
- X-linked infantile spinal muscular atrophy
- X-linked spinal muscular atrophy type 2

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535380

X-linked distal arthrogryposis multiplex congenita

Very frequent
- Abnormal gait
- Camptodactyly of fingers
- Restricted joint mobility / joint stiffness / ankylosis
- X-linked recessive inheritance

Frequent
- Broad nose / nasal bridge
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Dolichocephaly / scaphocephaly
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Proximally set thumb
- Scoliosis
- Short neck
- Short / small nose
- Simian crease / transverse / unique palmar crease
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormally placed nipples
- Dermoid sinus / dimple / pit (excluding sacral)
- Excess nuchal skin without pterygium colli
- Long / large ear
- Micropenis / small penis / agenesis
- Mouth held open
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Thin / hypoplastic / hyperconvex fingernails


Isolated CoQ-cytochrome C reductase deficiency

(no data available)