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Synpolydactyly type 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Lipoid proteinosis
1 OMIM reference -
1 associated gene
24 signs/symptoms
Synpolydactyly type 2
Lipoid proteinosis

FBLN1
(UniProt - OMIM)
 ECM1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FBLN1
(0.65)
ECM1


Citations in the biomedical literature:


Synpolydactyly type 2
FBLN1
Lipoid proteinosis
ECM1



Synpolydactyly type 2
Lipoid proteinosis

Synonym(s):
- SD2, Debeer type
- SD2b
- SPD, Debeer type
- SPD2
- Synpolydactyly, Debeer type
Synonym(s):
- Hyalinosis cutis et mucosae
- Urbach-Wiethe disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Lipoid proteinosis

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal scarring / cheloids / hypertrophic scars
- Acne / acnea
- Anomalies of eyelids, eyelashes and lacrimal system
- Anomalies of tongue, gingiva and oral mucosa
- Autosomal recessive inheritance
- Dermal / subcutaneous infiltration / induration
- Follicular / erythematous / edematous papules / milium
- Pustula / pustulosis
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thick lips
- Thick skin / pachydermia / orange skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Dystonia / torticollis / writer's cramp / blepharospasms
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microglossia / aglossia / hypoglossia / tongue hypoplasia
- Repeat respiratory infections
- Warts / papillomas

Occasional
- Intracranial / cerebral calcifications
- Nasal polyposis
- Seizures / epilepsy / absences / spasms / status epilepticus


Synpolydactyly type 2

(no data available)