Cytoscape Web
Click node...


1 OMIM reference -
4 associated genes
39 signs/symptoms
PROTEIN INTERACTIONS: 1
Lethal multiple pterygium syndrome
Muscle-eye-brain disease with bilateral multicystic leucodystrophy

CHRNA1 DAG1
CHRND
CHRNG
RAPSN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RAPSN
(0.77)
DAG1



Citations in the biomedical literature:


Lethal multiple pterygium syndrome
CHRNA1 CHRND CHRNG RAPSN
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
DAG1



Lethal multiple pterygium syndrome
Muscle-eye-brain disease with bilateral multicystic leucodystrophy

Synonym(s):
- Autosomal recessive lethal multiple pterygium syndrome
- LMPS

Synonym(s):
- MEB disease with bilateral multicystic leucodystrophy

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C537378
External references:
No OMIM references
No MeSH references

Lethal multiple pterygium syndrome

Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Camptodactyly of fingers
- Cutaneous / amniotic bands / webbing of joints
- Cystic hygroma
- Early death / lethality
- Epicanthic folds
- Hydrops fetalis
- Intrauterine growth retardation
- Polyhydramnios
- Popliteal web
- Restricted joint mobility / joint stiffness / ankylosis
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Webbed neck / pterygium colli
- X-linked recessive inheritance

Frequent
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypertelorism
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Long philtrum
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Short rib cage / thorax

Occasional
- Abnormal dermatoglyphics
- Anomalies of spine, vertebrae and pelvis
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Congenital cardiac anomaly / malformation / cardiopathy
- Diaphragmatic hernia / defect / agenesis
- Intestinal / gut / bowel malrotation
- Malignant hyperthermia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Structural anomalies of the kidney and the urinary tract
- Structural anomalies of the nervous system
- Synostosis
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Muscle-eye-brain disease with bilateral multicystic leucodystrophy

(no data available)