Immunodeficiency 58

Preferred Label : Immunodeficiency 58;

Symbol : IMD58;

CISMeF acronym : IMD58;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the capping protein regulator and myosin 1 linker 2 gene (CARMIL2, 610859.0001);

Neoplasia : Smooth muscle tumors, diffuse, EBV-related (in some patients);

Prefixed ID : #618131;

Details

Origin ID

618131;

UMLS CUI

C4748304;

Currated CISMeF NLP mapping
- Combined immunodeficiency due to CARMIL2 deficiency [ORDO Disease]
- immunodeficiency 58 [DO Concept]
DO Cross reference
- immunodeficiency 58 [DO Concept]
Genes related to phenotype
- Capping protein regulator and myosin 1 linker 2 [OMIM gene]
HPO term(s)
- Allergic rhinitis [HPO term]
- Asthma [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic bronchitis [HPO term]
- Chronic diarrhea [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Chronic otitis media [HPO term]
- Chronic pulmonary obstruction [HPO term]
- Cold urticaria [HPO term]
- Colitis [HPO term]
- Cutaneous abscess [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased T cell activation [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased specific antibody response to vaccination [HPO term]
- Dysphagia [HPO term]
- Dysuria [HPO term]
- Eczema [HPO term]
- Esophagitis [HPO term]
- Failure to thrive [HPO term]
- Fatigue [HPO term]
- Helicobacter pylori infection [HPO term]
- Ichthyosis [HPO term]
- Infantile onset [HPO term]
- Molluscum contagiosum [HPO term]
- Muscle spasm [HPO term]
- Nasal congestion [HPO term]
- Neonatal onset [HPO term]
- Onychomycosis [HPO term]
- Psoriasiform lesion [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent cutaneous abscess formation [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Scaling skin [HPO term]
- Seborrheic dermatitis [HPO term]
- Short stature [HPO term]
- Verrucae [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to CARMIL2 deficiency [ORDO Disease]
See also inter- (CISMeF)
- Combined immunodeficiency due to capping protein regulator and myosin 1 linker 2 deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 58 [DO Concept]

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