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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
33 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
X-linked intellectual deficit with marfanoid habitus

BCS1L MED12
CYC1 UPF3B
LYRM7 ZDHHC9
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TTC19
(0.73)
UPF3B



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
X-linked intellectual deficit with marfanoid habitus
MED12 UPF3B ZDHHC9



Isolated CoQ-cytochrome C reductase deficiency
X-linked intellectual deficit with marfanoid habitus

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

Synonym(s):
- Lujan syndrome
- Lujan-Fryns syndrome
- X-linked mental retardation with marfanoid habitus
- XLMR with marfanoid habitus

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

External references:
6 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

X-linked intellectual deficit with marfanoid habitus

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- High forehead
- High vaulted / narrow palate
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Psychic / behavioural troubles
- Scoliosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tall stature / gigantism / growth acceleration
- X-linked recessive inheritance

Frequent
- Atrial septal defect / interauricular communication
- Corpus callosum / septum pellucidum total / partial agenesis
- Flat cheek bones / malar hypoplasia
- High nasal bridge
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Long hand / arachnodactyly
- Macroorchidism / macrotestes
- Narrow face
- Pectus excavatum
- Short philtrum

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Brachycephaly / flat occiput
- Camptodactyly of some fingers
- Delirium / hallucination
- Low set ears / posteriorly rotated ears
- Prominent / bat ears
- Psychosis / schizophrenia / maniac disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short hand / brachydactyly


Isolated CoQ-cytochrome C reductase deficiency

(no data available)