ODCs

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Combined immunodeficiency due to DOCK8 deficiency

1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Adams-Oliver syndrome

4 OMIM references -
4 associated genes
47 signs/symptoms

Combined immunodeficiency due to DOCK8 deficiency

Adams-Oliver syndrome

DOCK8	(UniProt - OMIM)	ARHGAP31	(UniProt - OMIM)
		DOCK6	(UniProt - OMIM)
		EOGT	(UniProt - OMIM)
		RBPJ	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DOCK8	(0.72)	DOCK6

Citations in the biomedical literature:

Combined immunodeficiency due to DOCK8 deficiency		Adams-Oliver syndrome
	Synonym(s): - CID due to DOCK8 deficiency - Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency - DOCK8 immunodeficiency syndrome		Synonym(s): - AOS - Congenital scalp defects with distal limb anomalies - Congenital scalp defects with distal limb reduction anomalies - Limb, scalp and skull defects

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		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: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 1 MeSH reference: C538225


COMMON SIGNS	- Autosomal recessive inheritance

Combined immunodeficiency due to DOCK8 deficiency		Adams-Oliver syndrome
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Asthma / bronchospasm - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic / relapsing otitis - Eczema - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Repeat respiratory infections - Severe allergic reaction / atopy - T-cell deficiency / cellular immunity deficiency - Warts / papillomas Occasional - Neoplasms / tumors - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)		Very frequent - Autosomal dominant inheritance - Cutis marmorata / marbled skin / livedo - Failure to thrive / difficulties for feeding in infancy / growth delay - Foot absent / apodia / adactyly / acheiropodia - Global upper and lower limbs anomalies - Hand agenesis / absence - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lower limb segmental anomalies - Scalp / skull defect - Skin hypoplasia / aplasia / atrophy - Upper limb segmental anomalies Frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Cataract / lens opacification - Hydrocephaly - Irregular length / shape of fingers - Metacarpal anomalies / Archibald's sign - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Pulmonary valve atresia / stenosis / narrowing - Short hand / brachydactyly - Strabismus / squint - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Terminal / third phalangeal bone of fingers hypoplasia - Tetralogy of Fallot / trilogy of Fallot - Trident hand / split hand / abnormal median ray Occasional - Absent / small fingernails / anonychia of hands - Absent / small toenails / anonychia of feet - Alopecia - Ascitis - Cirrhosis - Congenital hepatic fibrosis - EEG anomalies - Encephalocele / exencephaly - Esophageal varices - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Leukopenia / hypoleukocytosis - Porencephaly - Portal hypertension - Prematurity - Pulmonary hypertension - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia - Venous stenosis