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Chilblain lupus
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Craniolenticulosutural dysplasia
1 OMIM reference -
1 associated gene
34 signs/symptoms
Chilblain lupus
Craniolenticulosutural dysplasia

SAMHD1
(UniProt - OMIM)
 SEC23A
(UniProt - OMIM)
TREX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SAMHD1
(0.63)
SEC23A


Citations in the biomedical literature:


Chilblain lupus
SAMHD1 TREX1
Craniolenticulosutural dysplasia
SEC23A



Chilblain lupus
Craniolenticulosutural dysplasia

Synonym(s):
(no synonyms)

Synonym(s):
- Boyadjiev-Jabs syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
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:
2 OMIM references -
1 MeSH reference: C535924
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


Chilblain lupus

(no data available)