ODCs

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Hutchinson-Gilford progeria syndrome

1 OMIM reference -
2 associated genes
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

Osteodysplasty, Melnick-Needles type

1 OMIM reference -
1 associated gene
38 signs/symptoms

Hutchinson-Gilford progeria syndrome

Osteodysplasty, Melnick-Needles type

LMNA	(UniProt - OMIM)		FLNA	(UniProt - OMIM)
ZMPSTE24	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.73)	FLNA

Citations in the biomedical literature:

Hutchinson-Gilford progeria syndrome		Osteodysplasty, Melnick-Needles type
	Synonym(s): - Progeria		Synonym(s): - Melnick-Needles syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic 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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - 1 MeSH reference: D011371		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Clavicle absent / abnormal - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Large fontanelle / delayed fontanelle closure - Micrognathia / retrognathia / micrognathism / retrognathism - Proptosis / exophthalmos - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia

Hutchinson-Gilford progeria syndrome		Osteodysplasty, Melnick-Needles type
	Very frequent - Abnormal fat distribution / lipodystrophy - Alopecia - Asthenia / fatigue / weakness - Decreased body hair / axillar / pubic hairlessness - Delayed dentition / eruption of teeth / lack of eruption of teeth - Early death / lethality - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Late puberty / hypogonadism / hypogenitalism - Narrow face - Premature ageing - Skull / cranial anomalies - Thin skin - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal gait - Abnormal pigmentary skin changes / skin pigmentation anomalies - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Angor pectoris / myocardial infarction - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Beaked nose - External ear anomalies - Global upper and lower limbs anomalies - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rippled skin - Thin / retracted lips - Tight skin / lack of elasticity Occasional - Articular / joint pain / arthralgia - Nephrosclerosis		Very frequent - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Metaphyseal anomaly - Narrow rib cage / thorax - Prominent supraorbital ridge - Short rib cage / thorax - X-linked dominant inheritance Frequent - Abnormal vertebral size / shape - Broad cheeks / cherub-like / cherubin face - Cardiac septal defect - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hyperextensible joints / articular hyperlaxity - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Repeat respiratory infections - Rib structure anomalies - Scoliosis - Vesicorenal / vesicoureteral reflux Occasional - Omphalocele / exomphalos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death