ODCs

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2 OMIM references -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
1 associated gene
29 signs/symptoms

Marie Unna hereditary hypotrichosis

Hypocalcemic vitamin D-resistant rickets

EPS8L3	(UniProt - OMIM)		VDR	(UniProt - OMIM)
HR	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HR	(0.81)	VDR

Citations in the biomedical literature:

Marie Unna hereditary hypotrichosis		Hypocalcemic vitamin D-resistant rickets
	Synonym(s): - Hypotrichosis, Marie Unna type - MUHH - Marie Unna congenital hypotrichosis		Synonym(s): - HVDRR - Hereditary vitamin D-resistant rickets - VDDR II - VDRR II - Vitamin D-dependent rickets type II - Vitamin D-resistant rickets type II

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C535912		External references: 2 OMIM references - No MeSH references

Marie Unna hereditary hypotrichosis		Hypocalcemic vitamin D-resistant rickets
	Very frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Autosomal dominant inheritance - Coarse / thick hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness		Very frequent - Anomalies of bones / skeletal anomalies - Autosomal recessive inheritance - Bone cyst - Bone pain - Hyperparathyroidy - Hypocalcemia - Hypophosphatemia - Joint / articular deformation - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Rough trabeculation of bone Frequent - Abnormal fat distribution / lipodystrophy - Abnormal gait - Abnormal vertebral size / shape - Anomalies of chest / thorax / trunk - Anomalies of skin, subcutaneous tissue and mucosae - Dolichocephaly / scaphocephaly - Genu varum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Metaphyseal anomaly - Premature lost of decidious teeth - Short stature / dwarfism / nanism - Urinary / renal lithiasis / kidney stones / nephritic colic Occasional - Anomalies of teeth and dentition - Frontal bossing / prominent forehead - Genu valgum - Scoliosis