ODCs

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Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Thanatophoric dysplasia type 1

1 OMIM reference -
1 associated gene
42 signs/symptoms

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Thanatophoric dysplasia type 1

SH2B1

(UniProt - OMIM)

FGFR3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2B1	(0.77)	FGFR3

Citations in the biomedical literature:

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency		Thanatophoric dysplasia type 1
	Synonym(s): (no synonyms)		Synonym(s): - TD1 - Thanatophoric dwarfism type 1

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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 dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

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

Thanatophoric dysplasia type 1
	Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Sacroiliac joints anomalies - Short hand / brachydactyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Short stature / dwarfism / nanism - Small face - Stillbirth / neonatal death - Trident hand / split hand / abnormal median ray Frequent - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Increased nuchal translucency - Kyphosis - Polyhydramnios - Proptosis / exophthalmos - Rippled skin Occasional - Acanthosis nigricans - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Cloverleaf skull - Hydrocephaly - Patent ductus arteriosus - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
(no data available)