KEGG DISEASE: Autosomal dominant pontine microangiopathy and leukoencephalopathy

DISEASE: Autosomal dominant pontine microangiopathy and leukoencephalopathy

Entry

H02718                      Disease

Name

Autosomal dominant pontine microangiopathy and leukoencephalopathy

Description

Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease characterized by multiple small infarctions in the pons. Mutations causing overproduction of COL4A1, encoding collagen type IV alpha 1 chain, have been identified in patients with this disease. Collagen type IV is one of the components of the brain vascular basement membrane responsible for maintaining mechanical stability.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Cerebrovascular diseases
   8B22  Certain specified cerebrovascular diseases
    H02718  Autosomal dominant pontine microangiopathy and leukoencephalopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02718  Autosomal dominant pontine microangiopathy and leukoencephalopathy
  nt06548  Integrin signaling
   H02718  Autosomal dominant pontine microangiopathy and leukoencephalopathy

Pathway

hsa04820 Cytoskeleton in muscle cells

hsa04518 Integrin signaling

Network

nt06539 Cytoskeleton in muscle cells
nt06548 Integrin signaling

Gene

COL4A1 [HSA:1282] [KO:K06237]

Other DBs

ICD-11:

8B22.CY

OMIM:

618564

Reference

PMID:34415564

Authors

Li Q, Wang C, Li W, Zhang Z, Wang S, Wupuer A, Hu X, Wumaier K, Zhu Y, Li H, Yu W

Title

A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy.

Journal

Transl Stroke Res 13:238-244 (2022)
DOI:10.1007/s12975-021-00926-0

Reference

PMID:37953842

Authors

Kikumoto M, Kurashige T, Ohshita T, Kume K, Kikumoto O, Nezu T, Aoki S, Ochi K, Morino H, Nomura E, Yamashita H, Kaneko M, Maruyama H, Kawakami H

Title

'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.

Journal

Brain Commun 5:fcad281 (2023)
DOI:10.1093/braincomms/fcad281

LinkDB

» Japanese version

DISEASE: Retinal arterial tortuosity

Entry

H02880                      Disease

Name

Retinal arterial tortuosity

Description

Retinal arterial tortuosity (RATOR) is a rare autosomal dominant disorder characterized by tortuosity of the second and higher order retinal arterioles. It may be asymptomatic but may cause visual loss with recurrent retinal hemorrhages. It has been reported that RATOR is associated with mutations in the COL4A1 gene, which encodes a component of type IV collagen.