Microphthalmia, syndromic 1

Preferred Label : Microphthalmia, syndromic 1;

Symbol : MCOPS1;

CISMeF acronym : MCOPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lenz dysplasia; Maa; Lenz microphthalmia syndrome; Microphthalmia, syndromic 4; Anop1; MCOPS4;

Description : Lenz microphthalmia syndrome is a rare multisystem condition defined by the canonical features of unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary systems. Anomalies of the digits, teeth, and ears are also hallmarks of the syndrome. Intellectual disability ranges from mild to severe, with self-mutilating behaviors and seizures in severely affected individuals (summary by Esmailpour et al., 2014).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the NatA catalytic subunit of N-alpha-acetyltransferase-10 gene (NAA10, 300013.0002);

Prefixed ID : #309800;

Details

Origin ID

309800;

UMLS CUI

C0796016;

Automatic exact mappings (from CISMeF team)
- Lenz microphthalmia syndrome (disorder) [SNOMED CT concept]
- Maasai Language [NCIt concept]
- Microphthalmia-ankyloblepharon-intellectual disability syndrome [ORDO Disease]
- syndromic microphthalmia 1 [DO Concept]
Currated CISMeF NLP mapping
- Microphthalmia, Lenz type [ORDO Disease]
- Microphthalmia, syndromic 1 [MeSH concept]
- microphthalmia, syndromic 1 [MeSH Supplementary Concept]
DO Cross reference
- syndromic microphthalmia 1 [DO Concept]
Genes related to phenotype
- N-alpha-acetyltransferase 10, nata catalytic subunit [OMIM gene]
HPO term(s)
- Abnormal palmar dermatoglyphics [HPO term]
- Abnormality of the pinna [HPO term]
- Aganglionic megacolon [HPO term]
- Agenesis of maxillary lateral incisor [HPO term]
- Aggressive behavior [HPO term]
- Anal atresia [HPO term]
- Anophthalmia [HPO term]
- Autistic behavior [HPO term]
- Bicuspid aortic valve [HPO term]
- Blindness [HPO term]
- Camptodactyly [HPO term]
- Chorioretinal coloboma [HPO term]
- Ciliary body coloboma [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Colobomas of optic disk, choroid, ciliary body, and iris [HPO term]
- Cryptorchidism [HPO term]
- Dental crowding [HPO term]
- Down-sloping shoulders [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- Hydroureter [HPO term]
- Hypoplastic clavicles [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Joint contracture of the hand [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microcephaly [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Optic disc coloboma [HPO term]
- Oral cleft [HPO term]
- Overfolded helix [HPO term]
- Pectus excavatum [HPO term]
- Poorly formed pinnae [HPO term]
- Prominent fingertip pads [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pyloric stenosis [HPO term]
- Radial deviation of finger [HPO term]
- Rectal prolapse [HPO term]
- Recurrent otitis media [HPO term]
- Renal hypoplasia [HPO term]
- Renal hypoplasia/aplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Short clavicles [HPO term]
- Sloping shoulders [HPO term]
- Spastic diplegia [HPO term]
- Syndactyly [HPO term]
- Tooth malposition [HPO term]
- Webbed neck [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Microphthalmia, Lenz type [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lenz microphthalmia syndrome (disorder) [SNOMED CT concept]
- Microphthalmia, Lenz type [ORDO Disease]
- Microphthalmia, syndromic 1 [MeSH concept]
- microphthalmia, syndromic 1 [MeSH Supplementary Concept]

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