Linear Skin Defects with Multiple Congenital Anomalies 1 (LSDMCA1)

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OMIM 57 309801 Orphanet 59 ORPHA2556 UMLS via Orphanet 74 C0796070 ICD10 via Orphanet 34 Q11.2 MedGen 42 C0796070

MeSH 44 D008850 D012868 KEGG 37 H01904 SNOMED-CT via HPO 69 35850006 55631001 111332007 406477003 4287008 204888000 34911001 21321009 230745008 271611007 32958008 103276001 15188001 343087000 95828007 249321001 23986001 128306009 193570009 247053007 204099004 7183006 314407005 204108000 61142002 7973008 28835009 65956007 253228006 392437005 387742006 17190001 4830009 49765009 249729002 311897005 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 5102002 253143001 36440009 432788009 17790008 253549006 30288003 253366007 405752007 70142008 409712001 8074002 233873004 45227007 195021004 399020009 48724000 253273004 396351009 59494005 253383003 248200007 32003007 398206004 398302004 204712000 204731006 86993003 230145002 267036007 271825005 230456007 88052002 20301004 87486003 63934006 409622000 237836003 237837007 422065006 399979006 400190005 111287006 421689001 95494009 80212005 91896009 91922000 235082006 64712007 20255002 238810007 247441003 271811009 444827008 70819003 86735004 95802009 102594003 44808001 698247007 78164000 18978002 253160006 more UMLS 73 C0796070

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Linear Skin Defects with Multiple Congenital Anomalies 1, also known as midas syndrome, is related to sclerocornea and mucolipidosis iii alpha/beta. An important gene associated with Linear Skin Defects with Multiple Congenital Anomalies 1 is HCCS (Holocytochrome C Synthase), and among its related pathways/superpathways is Oxidative phosphorylation. Affiliated tissues include skin, eye and heart, and related phenotypes are agenesis of corpus callosum and hydrocephalus

Genetics Home Reference : ²⁵ Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring.

OMIM : ⁵⁷ 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). (309801)

UniProtKB/Swiss-Prot : ⁷⁵ Linear skin defects with multiple congenital anomalies 1: A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. Skin defects are limited to the face and neck, consisting of areas of aplastic skin that heal with age to form hyperpigmented areas. Additional features in female patients include agenesis of the corpus callosum, sclerocornea, chorioretinal abnormalities, infantile seizures, congenital heart defect, mental retardation, and diaphragmatic hernia. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Wikipedia : ⁷⁶ Microphthalmia�??dermal aplasia�??sclerocornea syndrome (also known as "MIDAS syndrome") is a condition... more...

GeneReviews: NBK7041

Clinical features from OMIM:

309801

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance	GR00251-A-1	8.92	HCCS
2	Decreased shRNA abundance	GR00251-A-2	8.92	HCCS
3	Decreased shRNA abundance	GR00297-A	8.92	COX7B HCCS

Search NIH Clinical Center for Linear Skin Defects with Multiple Congenital Anomalies 1

Search GEO for disease gene expression data for Linear Skin Defects with Multiple Congenital Anomalies 1.