Linear skin defects with multiple congenital anomalies 1

Preferred Label : Linear skin defects with multiple congenital anomalies 1;

Symbol : LSDMCA1;

CISMeF acronym : LSDMCA1; MCOPS7; MLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microphthalmia with linear skin defects; MCOPS7; MLS; Midas syndrome; Microphthalmia, dermal aplasia, and sclerocornea; Microphthalmia, syndromic 7;

Description : The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas--in affected females and in utero lethality for males (Wimplinger et al., 2006). A similar form of congenital linear skin defects, also limited to the face and neck and associated with microcephaly, facial dysmorphism, and other congenital anomalies (300887) is caused by mutation in the COX7B gene (300885) on chromosome Xq21.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the holocytochrome C synthase gene (HCCS, 300056.0001);

Laboratory abnormalities : Distal Xp22.3 segmental monosomy;

Prefixed ID : #309801;

Details

Origin ID

309801;

UMLS CUI

C0796070;

Automatic exact mappings (from CISMeF team)
- HCCS wt Allele [NCIt concept]
- McLeod neuroacanthocytosis syndrome [ORDO Disease]
- Microphthalmia, dermal aplasia, and sclerocornea syndrome [ICD-11 More detail]
- Milliliter [NCIt concept]
- Milliliter (qualifier value) [SNOMED CT concept]
- Milliliter per Second [NCIt concept]
- Thrombopoietin [NCIt concept]
- linear skin defects with multiple congenital anomalies 1 [DO Concept]
- per milliliter (qualifier value) [SNOMED CT concept]
Currated CISMeF NLP mapping
- MIDAS syndrome [PASCAL descriptor]
- Microphthalmia with linear skin defect syndrome (disorder) [SNOMED CT concept]
- Microphthalmia with linear skin defects syndrome [ORDO Disease]
- Microphthalmia, syndromic 7 [MeSH concept]
- microphthalmia with linear skin defects [Disease (Nov.)]
- microphthalmia, syndromic 7 [MeSH Supplementary Concept]
DO Cross reference
- linear skin defects with multiple congenital anomalies 1 [DO Concept]
False automatic mappings
- Mali [NCIt concept]
Genes related to phenotype
- Holocytochrome C synthase [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Absent septum pellucidum [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Anteriorly placed anus [HPO term]
- Arrhythmia [HPO term]
- Asymmetric, linear skin defects [HPO term]
- Atrial septal defect [HPO term]
- Cataract [HPO term]
- Chordee [HPO term]
- Clitoral hypertrophy [HPO term]
- Colpocephaly [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Hearing impairment [HPO term]
- Histiocytoid cardiomyopathy [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the uterus [HPO term]
- Hypospadias [HPO term]
- Infantile seizures [HPO term]
- Intellectual disability, progressive [HPO term]
- Iris coloboma [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Overriding aorta [HPO term]
- Ovotestis [HPO term]
- Pigmentary retinopathy [HPO term]
- Sclerocornea [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Ventricular septal defect [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Microphthalmia with linear skin defects syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MIDAS syndrome [PASCAL descriptor]
- Microphthalmia with linear skin defect syndrome (disorder) [SNOMED CT concept]
- Microphthalmia with linear skin defects syndrome [ORDO Disease]
- Microphthalmia, syndromic 7 [MeSH concept]
- microphthalmia with linear skin defects [Disease (Nov.)]
- microphthalmia, syndromic 7 [MeSH Supplementary Concept]

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