ODCs

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Otopalatodigital syndrome type 2

1 OMIM reference -
1 associated gene
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Incontinentia pigmenti

1 OMIM reference -
1 associated gene
64 signs/symptoms

Otopalatodigital syndrome type 2

Incontinentia pigmenti

FLNA

(UniProt - OMIM)

IKBKG

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.72)	IKBKG

Citations in the biomedical literature:

Otopalatodigital syndrome type 2		Incontinentia pigmenti
	Synonym(s): (no synonyms)		Synonym(s): - Bloch-Siemens syndrome - Bloch-Sulzberger syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - 1 MeSH reference: C538089		External references: 1 OMIM reference - 1 MeSH reference: D007184


COMMON SIGNS	- Anodontia / oligodontia / hypodontia - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis

Otopalatodigital syndrome type 2		Incontinentia pigmenti
	Very frequent - Bowed diaphysis / diaphyses / long bones - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Narrow rib cage / thorax - Prominent supraorbital ridge - Short big toe - Thumb hypoplasia / aplasia / absence - X-linked recessive inheritance Frequent - Anomalies of spine, vertebrae and pelvis - Camptodactyly of fingers - Cardiac septal defect - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Failure to thrive / difficulties for feeding in infancy / growth delay - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Frontal sinus agenesis / anomaly - Glossoptosis - Hydrocephaly - Hypospadias / epispadias / bent penis - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Omphalocele / exomphalos - Osteosclerosis / osteopetrosis / bone condensation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Short hand / brachydactyly - Vertebral segmentation anomaly / hemivertebrae Occasional - Carpal bones fusion / synostosis - Encephalocele / exencephaly - Myelomeningocele - Preaxial polydactyly of toes / big toe duplication - Tarsal anomaly / fusion / synostosis		Very frequent - Abnormal fingernails - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / small fingernails / anonychia of hands - Cutaneous rash - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hair and scalp anomalies - Irregular / in bands / reticular skin hyperpigmentation - Irregular / patchy skin hypopigmentation - Nails anomalies - Telangiectasiae of the skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment - Warts / papillomas - X-linked dominant inheritance Frequent - Abnormal gait - Alopecia - Anomalies of ear and hearing - Anomalies of hands - Anomalies of the ribs - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Chronic skin infection / ulcerations / ulcers / cancrum - Cleft lip and palate - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Complete claw hand / camptodactyly of all fingers - Corneal clouding / opacity / vascularisation - Delayed dentition / eruption of teeth / lack of eruption of teeth - Eosinophils anomalies / hypereosinophilia - Hyperactivity / attention deficit - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Immunodeficiency / increased susceptibility to infections / recurrent infections - Osteolysis / osteoclasia / bone destruction / erosions - Short stature / dwarfism / nanism - Strabismus / squint - Supernumerary nipples / polythelia - Tooth shape anomaly - Visual loss / blindness / amblyopia Occasional - Abnormal toenails - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Blue sclerae - Cataract / lens opacification - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Encephalitis - Hand agenesis / absence - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Motor deficit / trouble - Pulmonary hypertension - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia - Retinal / chorioretinal dysplasia / dystrophy - Seizures / epilepsy / absences / spasms / status epilepticus - Spina bifida occulta - Syndactyly of fingers / interdigital palm - Transient cerebral ischemia / stroke - Umbilical hernia