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Zpráva o onemocněních · Ophthalmological

ROSAH Syndrome

Whole genome sequencing reads the ALPK1 gene for a change in one copy that causes ROSAH syndrome, an inherited inflammatory condition that can affect the retina, the optic nerve and sweating.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A rare inherited inflammatory condition causing retinal dystrophy, optic nerve swelling, an enlarged spleen, reduced sweating and headaches, and sometimes recurrent fevers. It is caused by a change in one copy of the ALPK1 gene.

ROSAH syndrome is a rare inherited inflammatory condition. The name refers to retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache. The condition can cause progressive retinal changes that may lead to sight loss, swelling of the optic nerve and an enlarged spleen. Reduced or absent sweating and migraine-like headaches are also common, and recurrent fevers and arthritis can occur.

The condition is caused by a change in one copy of ALPK1, a protein whose altered form activates the NF-kB inflammatory pathway. The change p.Thr237Met has been reported in more than one family. Severity varies within families, and most adults have eye involvement, although sight loss is not universal.

The condition is inherited in an autosomal dominant way. Each child of an affected person has a 50% chance of inheriting the change. Regular monitoring by eye, rheumatology and dental specialists is recommended, along with low-vision services where needed. Genetic counselling and family testing are useful.

Onemocnění, které analyzujeme

Retinal Dystrophy, Optic Nerve Oedema, Splenomegaly, Anhidrosis and Migraine Headache Syndrome

Autozomálně dominantní

Caused by a change in one copy of ALPK1, a protein whose altered form activates the NF-kB inflammatory pathway. The change p.Thr237Met is reported in more than one family, and ALPK1-related disease is inherited in an autosomal dominant way.

Příznaky a projevy

Optic nerve swelling and progressive retinal dystrophy that can lead to sight loss, with an enlarged spleen, reduced or absent sweating and migraine-like headaches. Recurrent fevers and arthritis can occur, dental problems are common, and blood counts may be mildly low. Severity varies within families.

Co se diagnózou změní

Regular monitoring by eye, inflammation (rheumatology) and dental specialists, with low vision services as needed. Each child of an affected person has a 50% chance of inheriting the change, so genetic counselling and family testing are useful.

Analyzované geny

Známé také jako

optic nerve edema-splenomegaly syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache; ROSAH; ROSAH syndrome

MONDO:0013999OMIM 614979Orphanet 313800MedGen 1662266Zdroje: [1][2][3]

Proč sekvenování celého genomu

ROSAH syndrome affects several organs, so a gene result can help bring the eye, inflammation and dental teams together.

Care shared between specialists

Monitoring is shared between eye, inflammation and dental specialists, with low-vision services where needed. Intraocular inflammation is managed by the eye team. Sweating problems are monitored as well, and dental enamel defects are treated.

A 50% chance for each child

Each child of an affected person has a 50% chance of inheriting the ALPK1 change, so genetic counselling and family testing are useful. Once the change is known in a family, prenatal and preimplantation genetic testing are possible.

Reference

  1. Kozycki C, Kastner D, Huryn L, Kodati S, Warner BM, 2024. ALPK1-Related Autoinflammatory Disease. GeneReviews
  2. Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A et al., 2023. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy. Ophthalmology
  3. Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O et al., 2023. ROSAH syndrome mimicking chronic uveitis. Clinical genetics

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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