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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
79 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Wolf-Hirschhorn syndrome

BCS1L LETM1
CYC1 NELFA
LYRM7 WHSC1
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BCS1L
(0.63)
LETM1



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Wolf-Hirschhorn syndrome
LETM1 NELFA WHSC1



Isolated CoQ-cytochrome C reductase deficiency
Wolf-Hirschhorn syndrome

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

Synonym(s):
- 4p- syndrome
- Distal deletion 4p
- Distal monosomy 4p
- Telomeric deletion 4p

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare surgical thoracic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: sporadic

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C536740 / D054877

Wolf-Hirschhorn syndrome

Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of mouth, lip and philtrum
- Ataxia / incoordination / trouble of the equilibrium
- Broad nose / nasal bridge
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Downturned mouth
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Frontal bossing / prominent forehead
- High arched eyebrows
- High forehead
- High hair line (front) / widow peak
- Hypertelorism
- Hypospadias / epispadias / bent penis
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short philtrum

Frequent
- Abnormal vertebral size / shape
- Anomalies of chest / thorax / trunk
- Anomalies of hands
- Anomalies of spine, vertebrae and pelvis
- Atrial septal defect / interauricular communication
- Big toe anomaly (excluding absence)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cardiac septal defect
- Cardiac valvulopathy
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Diaphragmatic hernia / defect / agenesis
- Foot anomalies
- Hearing loss / hypoacusia / deafness
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Kyphosis
- Long hand / arachnodactyly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Ptosis
- Renal / kidney anomalies
- Rib number anomalies
- Sacral sinus / dimple
- Scalp / skull defect
- Scoliosis
- Talipes-varus / metatarsal varus
- Thumb duplication / distal bifid thumb phalangeal bone
- Thumb hypoplasia / aplasia / absence
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anomalies of the immunitary system
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Chronic / relapsing otitis
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Gallbladder / common bile duct anomalies
- Herniae
- Hypoplastic / absent nipples
- Long limbs / dolichostenomelia
- Megalocornea
- Movement disorder
- Nystagmus
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Proptosis / exophthalmos
- Repeat respiratory infections
- Retinopathy
- Sclerocornea
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Stillbirth / neonatal death
- Strabismus / squint
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract


Isolated CoQ-cytochrome C reductase deficiency

(no data available)