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2p21 microdeletion syndrome

1 OMIM reference -
4 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Incontinentia pigmenti

1 OMIM reference -
1 associated gene
64 signs/symptoms

2p21 microdeletion syndrome

Incontinentia pigmenti

CAMKMT	(UniProt - OMIM)		IKBKG	(UniProt - OMIM)
PPM1B	(UniProt - OMIM)
PREPL	(UniProt - OMIM)
SLC3A1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PPM1B	(0.83)	IKBKG

Citations in the biomedical literature:

2p21 microdeletion syndrome		Incontinentia pigmenti
	Synonym(s): - 2p21 deletion - Del(2)(p21) - Monosomy 2p21		Synonym(s): - Bloch-Siemens syndrome - Bloch-Sulzberger syndrome

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D007184


COMMON SIGNS	- Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

2p21 microdeletion syndrome		Incontinentia pigmenti
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Depressed nasal bridge - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Late puberty / hypogonadism / hypogenitalism - Long / thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Respiratory chain / mitochondrial anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hypocalcemia - Organic acid metabolism anomalies Occasional - Fetal immobility / abnormal fetal movements - Hypoglycemia		Very frequent - Abnormal fingernails - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / small fingernails / anonychia of hands - Anodontia / oligodontia / hypodontia - 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 - Scoliosis - 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 - Motor deficit / trouble - Pulmonary hypertension - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia - Retinal / chorioretinal dysplasia / dystrophy - Spina bifida occulta - Syndactyly of fingers / interdigital palm - Transient cerebral ischemia / stroke - Umbilical hernia