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5 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
28 signs/symptoms
Congenital muscular dystrophy with cerebellar involvement
Mandibuloacral dysplasia with type A lipodystrophy

FKRP LMNA
GMPPB
POMGNT1
POMT1
POMT2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GMPPB
(0.63)
LMNA



Citations in the biomedical literature:


Congenital muscular dystrophy with cerebellar involvement
FKRP GMPPB POMGNT1 POMT1 POMT2
Mandibuloacral dysplasia with type A lipodystrophy
LMNA



Congenital muscular dystrophy with cerebellar involvement
Mandibuloacral dysplasia with type A lipodystrophy

Synonym(s):
- CMD with cerebellar involvement
- CMD-CRB

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535705

Mandibuloacral dysplasia with type A lipodystrophy

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Alopecia
- Clavicle absent / abnormal
- Large fontanelle / delayed fontanelle closure
- Osteolysis / osteoclasia / bone destruction / erosions
- Premature ageing
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Terminal / third phalangeal bone of fingers hypoplasia
- Wormian bones

Frequent
- Eyebrows anomalies
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Proptosis / exophthalmos

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Anomalies of cartilages, joints and periarticular tissue
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of teeth and dentition
- Articular / joint pain / arthralgia
- Autosomal recessive inheritance
- Breast tissue / mammary gland absence / aplasia
- Cataract / lens opacification
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hypotonia
- Muscle anomalies
- Tight skin / lack of elasticity


Congenital muscular dystrophy with cerebellar involvement

(no data available)