Cutis Laxa, Autosomal Recessive, Type Iia (ARCL2A)

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Disease Ontology 12 DOID:0070134 OMIM 58 219200 MeSH 45 D003483 ICD10 34 Q82.8

MedGen 43 C0268355 SNOMED-CT via HPO 70 111266001 128602000 128613002 14447001 14582003 199612005 201093004 203534009 22033007 22066006 228156007 23024003 246545002 246800008 247578003 249310005 25159003 258211005 271611007 27272007 298181000 313307000 36440009 396232000 398151007 398152000 432788009 48334007 48610005 4945003 52781008 53226007 57190000 58588007 64217002 708670007 71325002 80967001 84757009 90145001 91138005 91175000 95515009 more UMLS 74 C0268355

OMIM : ⁵⁸ Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (219200)

MalaCards based summary : Cutis Laxa, Autosomal Recessive, Type Iia, also known as cutis laxa with joint laxity and retarded development, is related to atp6v0a2-related cutis laxa and autosomal recessive cutis laxa type ii classic type, and has symptoms including seizures An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iia is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways is PI3K-Akt signaling pathway. Affiliated tissues include skin, bone and eye, and related phenotypes are malar flattening and low-set ears

Disease Ontology : ¹² An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

UniProtKB/Swiss-Prot : ⁷⁶ Cutis laxa, autosomal recessive, 2A: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.

Wikipedia : ⁷⁷ De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose... more...

Clinical features from OMIM:

219200

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