ODCs

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Dominant hypophosphatemia with nephrolithiasis or osteoporosis

2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Coffin-Lowry syndrome

1 OMIM reference -
1 associated gene
68 signs/symptoms

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Coffin-Lowry syndrome

SLC34A1	(UniProt - OMIM)		RPS6KA3	(UniProt - OMIM)
SLC9A3R1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC9A3R1	(0.63)	RPS6KA3

Citations in the biomedical literature:

Dominant hypophosphatemia with nephrolithiasis or osteoporosis		Coffin-Lowry syndrome
	Synonym(s): (no synonyms)		Synonym(s): - CLS

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D038921

Coffin-Lowry syndrome
	Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal vertebral size / shape - Anodontia / oligodontia / hypodontia - Anteverted nares / nostrils - Coarse face - Delayed bone age - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Diaphyseal anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Everted lower lip - Flared / thick ala nasi - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Large hand - Mouth held open - Pectus carinatum - Pectus excavatum - Protruding lips - Scoliosis - Short hand / brachydactyly - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tapered fingers - Thick lips - Thick / dowel fingers - Tooth shape anomaly Frequent - Abnormal gait - Absent / small fingernails / anonychia of hands - Broad nose / nasal bridge - Dilated cerebral ventricles without hydrocephaly - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Flat foot - High vaulted / narrow palate - Hypertonia / spasticity / rigidity / stiffness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Loose skin / skin relaxation / excess skin / creases - Macrostomia / big mouth - Metacarpal anomalies / Archibald's sign - Microcephaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Prominent / bat ears - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Apnea / sleep apnea - Auto-aggressivity / auto-mutilation - Blepharitis / eyelid inflammation - Cataract / lens opacification - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Delayed dentition / eruption of teeth / lack of eruption of teeth - Early death in adulthood - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Premature eruption of teeth / natal teeth - Retinitis pigmentosa / retinal pigmentary changes - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
(no data available)