MSeqDR Mitochondrial Disease Portal


 
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expandmalformation syndrome with skin/mucosae involvement (MONDO:0015331)
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expandmixed dermis disorder (MONDO:0019294)
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expandrare disease with glaucoma as a major feature (MONDO:0020222)
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expandsyndromic anorectal malformation (MONDO:0015246)
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expandsyndromic microphthalmia (MONDO:0016073)
..Starting node
..expandmicrophthalmia with linear skin defects syndrome ()

       Child Nodes:
........expandlinear skin defects with multiple congenital anomalies 1 ()
........expandlinear skin defects with multiple congenital anomalies 2 ()
........expandlinear skin defects with multiple congenital anomalies 3 ()



 Sister Nodes: 
..expandanophthalmia/microphthalmia-esophageal atresia syndrome ()
..expandbehrens baumann dust syndrome ()
..expandCOFS syndrome ()
..expandcolobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome ()
..expandcolobomatous microphthalmia-rhizomelic dysplasia syndrome ()
..expandMatthew-wood syndrome ()
..expandmicrophthalmia microtia fetal akinesia ()
..expandmicrophthalmia with brain and digit anomalies ()
..expandmicrophthalmia with linear skin defects syndrome ()
..expandmicrophthalmia, Lenz type ()
..expandmicrophthalmia, syndromic 11 ()
..expandmicrophthalmia, syndromic 12 ()
..expandmicrophthalmia, syndromic 2 ()
..expandmicrophthalmia-ankyloblepharon-intellectual disability syndrome ()
..expandmicrophthalmia-brain atrophy syndrome ()
..expandMMEP syndrome ()
..expandoculoauricular syndrome ()
..expandoculofaciocardiodental syndrome ()
..expandsyndromic microphthalmia type 5 ()
..expandWarburg micro syndrome ()
..expandX-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10672
Name:microphthalmia with linear skin defects syndrome
Definition:Microphthalmia with linear skin defects syndrome (MLS syndrome) is a genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes ( microphthalmia ) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.
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Synonyms:linear skin defects with multiple congenital anomalies; linear skin defects with multiple congenital anomalies 1; linear skin defects with multiple congenital anomalies type 1; LSDMCA1; MCOPS7; microphthalmia dermal aplasia and sclerocornea syndrome; microphthalmia-dermal aplasia-sclerocornea syndro
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Reference: MedGen:
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MSeqDR LSDB:  
Genes: FBN1;
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Disease Causing ClinVar Variants
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