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Nestor-Guillermo progeria syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Ellis Van Creveld syndrome

1 OMIM reference -
2 associated genes
50 signs/symptoms

Nestor-Guillermo progeria syndrome

Ellis Van Creveld syndrome

BANF1	(UniProt - OMIM)		EVC	(UniProt - OMIM)
			EVC2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BANF1	(0.63)	EVC2

Citations in the biomedical literature:

Nestor-Guillermo progeria syndrome		Ellis Van Creveld syndrome
	Synonym(s): - NGPS		Synonym(s): - Chondroectodermal dysplasia - Mesodermic dysplasia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory disease - Rare skin disease - Rare surgical cardiac disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D004613

Ellis Van Creveld syndrome
	Very frequent - Abnormal fingernails - Anomalies of teeth and dentition - Anomalies of tongue, gingiva and oral mucosa - Atrial septal defect / interauricular communication - Atrioventricular canal - Autosomal recessive inheritance - Cardiac valvulopathy - Congenital cardiac anomaly / malformation / cardiopathy - Failure to thrive / difficulties for feeding in infancy / growth delay - Genu valgum - Hair and scalp anomalies - Nails anomalies - Narrow rib cage / thorax - Polydactyly of toes - Rhizomelic micromelia - Short rib cage / thorax - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Upper limb polydactyly / hexadactyly Frequent - Anodontia / oligodontia / hypodontia - Bladder and ureter anomalies - Complete / partial microdontia - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Hypospadias / epispadias / bent penis - Intrauterine growth retardation - Oral synechiae / abnormal frenulae - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Renal / kidney anomalies - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ventricular septal defect / interventricular communication - Wrist / carpal anomalies Occasional - Acute leukemia - Agenesis / hypoplasia / aplasia of kidneys - Anomalies of bones / skeletal anomalies - Bone marrow anomalies - Carpal bones fusion / synostosis - Cubitus valgus - Delayed bone age - Delayed dentition / eruption of teeth / lack of eruption of teeth - Emphysema - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Stillbirth / neonatal death - Thin / retracted lips - Uterine / uterus / Fallopian tubes anomalies
Nestor-Guillermo progeria syndrome
(no data available)