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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
34 signs/symptoms
Charcot-Marie-Tooth disease type 4D
Craniolenticulosutural dysplasia

NDRG1 SEC23A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NDRG1
(0.73)
SEC23A



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 4D
NDRG1
Craniolenticulosutural dysplasia
SEC23A



Charcot-Marie-Tooth disease type 4D
Craniolenticulosutural dysplasia

Synonym(s):
- CMT4D
- HMSN, Lom type
- Hereditary motor and sensory neuropathy, Lom type

Synonym(s):
- Boyadjiev-Jabs syndrome

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535716
External references:
1 OMIM reference -
No MeSH references

Craniolenticulosutural dysplasia

Very frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Autosomal recessive inheritance
- Brittle hair / distrix / trichorrhexis
- Broad nose / nasal bridge
- Cataract / lens opacification
- Coarse / thick hair
- Complete / partial microdontia
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Frontal bossing / prominent forehead
- High nasal bridge
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Large fontanelle / delayed fontanelle closure
- Long philtrum
- Macrostomia / big mouth
- Multiple caries
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Philtrum flat / large / featureless / absent cupidon bows
- Poorly ossified skull / calvarium
- Prominent supraorbital ridge
- Scoliosis
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Flat foot
- Narrow rib cage / thorax
- Narrow / sloping shoulders
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Charcot-Marie-Tooth disease type 4D

(no data available)