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Autosomal dominant macrothrombocytopenia

3 OMIM references -
4 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Osteodysplasty, Melnick-Needles type

1 OMIM reference -
1 associated gene
38 signs/symptoms

Autosomal dominant macrothrombocytopenia

Osteodysplasty, Melnick-Needles type

ACTN1	(UniProt - OMIM)	FLNA	(UniProt - OMIM)
ITGA2B	(UniProt - OMIM)
ITGB3	(UniProt - OMIM)
TUBB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGB3	(0.63)	FLNA

Citations in the biomedical literature:

Autosomal dominant macrothrombocytopenia		Osteodysplasty, Melnick-Needles type
	Synonym(s): (no synonyms)		Synonym(s): - Melnick-Needles syndrome

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - 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: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Osteodysplasty, Melnick-Needles type
	Very frequent - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Long foot / arachnodactyly of toes - Long hand / arachnodactyly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Prominent supraorbital ridge - Proptosis / exophthalmos - Short rib cage / thorax - Short stature / dwarfism / nanism - X-linked dominant inheritance Frequent - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Broad cheeks / cherub-like / cherubin face - Cardiac septal defect - Clavicle absent / abnormal - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - 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 - Terminal / third phalangeal bone of fingers hypoplasia - Vesicorenal / vesicoureteral reflux Occasional - Omphalocele / exomphalos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death
Autosomal dominant macrothrombocytopenia
(no data available)