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Seckel syndrome

6 OMIM references -
6 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
40 signs/symptoms

Seckel syndrome

Bloom syndrome

ATR	(UniProt - OMIM)		BLM	(UniProt - OMIM)
ATRIP	(UniProt - OMIM)
CENPJ	(UniProt - OMIM)
CEP152	(UniProt - OMIM)
PCNT	(UniProt - OMIM)
RBBP8	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ATR	(0.65)	BLM

Citations in the biomedical literature:

Seckel syndrome		Bloom syndrome
	Synonym(s): (no synonyms)		Synonym(s): - BSyn

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 6 OMIM references - 1 MeSH reference: C537533		External references: 1 OMIM reference - 1 MeSH reference: D001816


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Narrow face - Short stature / dwarfism / nanism

Seckel syndrome		Bloom syndrome
	Very frequent - Abnormal / absent ossification - Beaked nose - Clinodactyly of fifth finger - Craniostenosis / craniosynostosis / sutural synostosis - Micrognathia / retrognathia / micrognathism / retrognathism - Premature ageing - Small / hypoplastic / adherent / absent ear lobe - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Frequent - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Enamel anomaly - Glaucoma - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Scoliosis		Very frequent - Acute diarrhea - Anomalies of nose and olfaction - Anomalies of skin, subcutaneous tissue and mucosae - Chromosome breakage - Delayed bone age - Dolichocephaly / scaphocephaly - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Flat cheek bones / malar hypoplasia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Irregular / in bands / reticular skin hyperpigmentation - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Neoplasms / tumors - Repeat respiratory infections Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Face / facial anomalies - Hypoplastic mandibula / partial absence of the mandibula - Short / small nose - Skin photosensitivity - Telangiectasiae of the skin Occasional - Acute leukemia - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Digestive neoplasm / tumor / carcinoma / cancer - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperhidrosis / increased sweating - Ichthyosis / ichthyosiform dermatitis - Irregular / patchy skin hypopigmentation - Lymphoma - Prominent / bat ears - Sacral sinus / dimple - Skin tumors / lumps / epidermal cysts - Sterility / hypofertility - Syndactyly of fingers / interdigital palm - Upper limb polydactyly / hexadactyly