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Relatório de condições · Neurológico

Neuropatias Periféricas Hereditárias Raras

Um grupo de doenças hereditárias que afetam os nervos periféricos, causando fraqueza, atrofia e dormência nas mãos e nos pés, por vezes com problemas de audição, visão ou equilíbrio. Este relatório abrange GAN, ABHD12, PRPS1, SLC25A46, IGHMBP2, PLEKHG5, SARS1 e SCN9A.

Um relatório de condições procura variantes raras conhecidas por causar as condições que abrange.

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As 5 doenças que analisamos

Neuropatia Periférica Hereditária

Causada por alterações num dos muitos genes necessários para manter as fibras nervosas longas saudáveis. Neste relatório, estão incluídos IGHMBP2 e PLEKHG5, que são recessivos.

Sinais e sintomas

A fraqueza e a atrofia dos pés e da parte inferior das pernas, o peito do pé elevado, reflexos diminuídos e dormência costumam surgir primeiro, afetando mais tarde as mãos. O início pode ocorrer desde a infância até à idade adulta, consoante o gene. Com menos frequência, a principal característica é a fraqueza dos músculos respiratórios na infância, como na SMARD1 associada ao IGHMBP2.

O que muda com um diagnóstico

A fisioterapia, as ortóteses e a terapia ocupacional ajudam a manter a mobilidade, com cirurgia para deformidades do pé quando necessário. Algumas formas requerem monitorização respiratória. O aconselhamento genético orienta o rastreio familiar de acordo com o padrão de hereditariedade do gene envolvido.

Genes analisados

Também conhecida como

genetic peripheral neuropathy

Formas específicas também abrangidas

  • Neuropatia Axonal Gigante 1

    Autossómica recessiva

    Causada por alterações em ambas as cópias do gene GAN, que codifica a gigaxonina, uma proteína que elimina os filamentos intermédios das células nervosas. Sem ela, os filamentos acumulam-se e incham as fibras nervosas.

    GAN

  • Síndrome PHARC

    Autossómica recessiva

    Causada por alterações em ambas as cópias do gene ABHD12, uma enzima que degrada moléculas lipídicas de sinalização no sistema nervoso. O nome corresponde a polineuropatia, perda auditiva, ataxia, retinite pigmentosa e catarata.

    ABHD12

  • Doença por Deficiência de PRPS1

    Recessiva ligada ao X

    Causada por alterações no PRPS1, no cromossoma X, que reduzem a atividade de uma enzima necessária para produzir os blocos de construção das purinas. Os indivíduos do sexo masculino são afetados principalmente; as portadoras do sexo feminino podem ser assintomáticas ou apresentar características mais ligeiras.

    PRPS1

  • Neuropatia Motora e Sensitiva Hereditária Tipo 6B

    Autossómica recessiva

    Causada por alterações em ambas as cópias do gene SLC25A46.

    SLC25A46

Inclui 355 subtipos relacionados ↓
  • AApoAI amyloidosis
  • abetalipoproteinemia
  • adrenomyeloneuropathy
  • adult Krabbe disease
  • adult polyglucosan body disease
  • adult Refsum disease due to PEX7 defect
  • AFib amyloidosis
  • ALys amyloidosis
  • amyloidosis, hereditary systemic 1
  • amyloidosis, hereditary systemic 3
  • amyloidosis, hereditary systemic 5
  • amyloidosis, hereditary systemic 6
  • amyotrophic neuralgia
  • apolipoprotein A-II amyloidosis
  • ataxia - oculomotor apraxia type 4
  • attenuated Chédiak-Higashi syndrome
  • ATTRV122I amyloidosis
  • ATTRV30M amyloidosis
  • autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
  • autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
  • autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
  • autosomal dominant Charcot-Marie-Tooth disease type 2K
  • autosomal dominant Charcot-Marie-Tooth disease type 2M
  • autosomal dominant Charcot-Marie-Tooth disease type 2W
  • autosomal dominant childhood-onset proximal spinal muscular atrophy
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
  • autosomal dominant intermediate Charcot-Marie-Tooth disease
  • autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
  • autosomal dominant slowed nerve conduction velocity
  • autosomal recessive ataxia due to ubiquinone deficiency
  • autosomal recessive distal spinal muscular atrophy 1
  • autosomal recessive distal spinal muscular atrophy 2
  • autosomal recessive intermediate Charcot-Marie-Tooth disease
  • beta-mannosidosis
  • biotinidase deficiency
  • carpal tunnel syndrome
  • carpal tunnel syndrome 1
  • carpal tunnel syndrome 2
  • cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
  • cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • cerebrotendinous xanthomatosis
  • channelopathy-associated congenital insensitivity to pain, autosomal recessive
  • Charcot-Marie-Tooth disease
  • Charcot-Marie-Tooth disease axonal type 2C
  • Charcot-Marie-Tooth disease axonal type 2CC
  • Charcot-Marie-Tooth disease axonal type 2F
  • Charcot-Marie-Tooth disease axonal type 2H
  • Charcot-Marie-Tooth disease axonal type 2K
  • Charcot-Marie-Tooth disease axonal type 2L
  • Charcot-Marie-Tooth disease axonal type 2N
  • Charcot-Marie-Tooth disease axonal type 2O
  • Charcot-Marie-Tooth disease axonal type 2P
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Charcot-Marie-Tooth disease axonal type 2S
  • Charcot-Marie-Tooth disease axonal type 2U
  • Charcot-Marie-Tooth disease axonal type 2V
  • Charcot-Marie-Tooth disease axonal type 2X
  • Charcot-Marie-Tooth disease axonal type 2Z
  • Charcot-Marie-Tooth disease dominant intermediate B
  • Charcot-Marie-Tooth disease dominant intermediate C
  • Charcot-Marie-Tooth disease dominant intermediate D
  • Charcot-Marie-Tooth disease dominant intermediate E
  • Charcot-Marie-Tooth disease dominant intermediate F
  • Charcot-Marie-Tooth disease recessive intermediate A
  • Charcot-Marie-Tooth disease recessive intermediate B
  • Charcot-Marie-Tooth disease recessive intermediate C
  • Charcot-Marie-Tooth disease recessive intermediate D
  • Charcot-Marie-Tooth disease type 1
  • Charcot-Marie-Tooth disease type 1A
  • Charcot-Marie-Tooth disease type 1B
  • Charcot-Marie-Tooth disease type 1C
  • Charcot-Marie-Tooth disease type 1D
  • Charcot-Marie-Tooth disease type 1E
  • Charcot-Marie-Tooth disease type 1F
  • Charcot-Marie-Tooth disease type 2
  • Charcot-Marie-Tooth disease type 2A1
  • Charcot-Marie-Tooth disease type 2A2
  • Charcot-Marie-Tooth disease type 2B
  • Charcot-Marie-Tooth disease type 2B1
  • Charcot-Marie-Tooth disease type 2B2
  • Charcot-Marie-Tooth disease type 2B5
  • Charcot-Marie-Tooth disease type 2D
  • Charcot-Marie-Tooth disease type 2E
  • Charcot-Marie-Tooth disease type 2I
  • Charcot-Marie-Tooth disease type 2J
  • Charcot-Marie-Tooth disease type 2R
  • Charcot-Marie-Tooth disease type 2T
  • Charcot-Marie-Tooth disease type 2Y
  • Charcot-Marie-Tooth disease type 3
  • Charcot-Marie-Tooth disease type 4
  • Charcot-Marie-Tooth disease type 4A
  • Charcot-Marie-Tooth disease type 4B1
  • Charcot-Marie-Tooth disease type 4B2
  • Charcot-Marie-Tooth disease type 4B3
  • Charcot-Marie-Tooth disease type 4C
  • Charcot-Marie-Tooth disease type 4D
  • Charcot-Marie-Tooth disease type 4E
  • Charcot-Marie-Tooth disease type 4F
  • Charcot-Marie-Tooth disease type 4G
  • Charcot-Marie-Tooth disease type 4H
  • Charcot-Marie-Tooth disease type 4J
  • Charcot-Marie-Tooth disease type 4K
  • Charcot-Marie-Tooth disease type 5
  • Charcot-Marie-Tooth disease type X
  • Charcot-Marie-Tooth disease with ptosis and parkinsonism
  • Charcot-Marie-Tooth disease X-linked dominant 1
  • Charcot-Marie-Tooth disease X-linked dominant 6
  • Charcot-Marie-Tooth disease X-linked recessive 2
  • Charcot-Marie-Tooth disease X-linked recessive 3
  • Charcot-Marie-Tooth disease X-linked recessive 4
  • Charcot-Marie-Tooth disease X-linked recessive 5
  • Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;
  • Charcot-Marie-Tooth disease, axonal, IIa 2II
  • Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
  • Charcot-Marie-tooth disease, axonal, type 2DD
  • Charcot-Marie-Tooth disease, axonal, type 2EE
  • Charcot-Marie-Tooth disease, axonal, type 2FF
  • Charcot-Marie-Tooth Disease, axonal, type 2GG
  • Charcot-Marie-Tooth disease, axonal, Type 2HH
  • Charcot-Marie-tooth disease, axonal, type 2JJ
  • Charcot-Marie-Tooth disease, axonal, type 2KK
  • Charcot-Marie-Tooth disease, axonal, type 2LL
  • charcot-marie-tooth disease, axonal, type 2MM
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
  • Charcot-Marie-Tooth disease, demyelinating, IIA 1H
  • Charcot-Marie-Tooth disease, demyelinating, IIA 1I
  • Charcot-Marie-Tooth disease, demyelinating, type 1G
  • Charcot-Marie-Tooth disease, demyelinating, type 1J
  • Charcot-Marie-Tooth disease, dominant intermediate A
  • Charcot-Marie-Tooth disease, dominant intermediate G
  • Charcot-Marie-Tooth disease, Guadalajara neuronal type
  • Chediak-Higashi syndrome
  • coenzyme Q10 deficiency
  • coenzyme Q10 deficiency, primary, 1
  • coenzyme Q10 deficiency, primary, 3
  • coenzyme q10 deficiency, primary, 9
  • cold-induced sweating syndrome
  • cold-induced sweating syndrome - hyperthermia spectrum
  • Cold-induced sweating syndrome 1
  • cold-induced sweating syndrome 2
  • congenital insensitivity to pain
  • congenital insensitivity to pain syndrome, Marsili type
  • congenital insensitivity to pain with hyperhidrosis
  • congenital insensitivity to pain with severe intellectual disability
  • congenital insensitivity to pain-hypohidrosis syndrome
  • congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • congenital trigeminal anesthesia
  • deafness-encephaloneuropathy-obesity-valvulopathy syndrome
  • demyelinating hereditary motor and sensory neuropathy
  • distal hereditary motor neuropathy
  • distal hereditary motor neuropathy type 2
  • distal hereditary motor neuropathy type 7
  • early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
  • EMILIN-1-related connective tissue disease
  • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
  • episodic pain syndrome, familial, 2
  • familial amyloid neuropathy
  • familial episodic pain syndrome
  • familial episodic pain syndrome with predominantly lower limb involvement
  • familial episodic pain syndrome with predominantly upper body involvement
  • familial isolated deficiency of vitamin E
  • familial recurrent peripheral facial palsy
  • familial steroid-resistant nephrotic syndrome with sensorineural deafness
  • familial visceral amyloidosis
  • Finnish type amyloidosis
  • fumaric aciduria
  • giant axonal neuropathy
  • giant axonal neuropathy 1
  • giant axonal neuropathy 2
  • hereditary motor and sensory neuropathy
  • hereditary motor and sensory neuropathy type 6
  • hereditary motor and sensory neuropathy with acrodystrophy
  • hereditary motor and sensory neuropathy, Okinawa type
  • hereditary neuropathy with liability to pressure palsies
  • hereditary sensorimotor neuropathy with hyperelastic skin
  • hereditary sensory and autonomic neuropathy
  • hereditary sensory and autonomic neuropathy type 1
  • hereditary sensory and autonomic neuropathy type 2
  • hereditary sensory and autonomic neuropathy type 4
  • hereditary sensory and autonomic neuropathy type 5
  • hereditary sensory and autonomic neuropathy type 6
  • hereditary sensory and autonomic neuropathy type 7
  • hereditary sensory and autonomic neuropathy with spastic paraplegia
  • hereditary sensory neuropathy X-linked
  • hereditary sensory neuropathy-deafness-dementia syndrome
  • hereditary spastic paraplegia 17
  • hereditary spastic paraplegia 49
  • hereditary thermosensitive neuropathy
  • homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • infantile axonal neuropathy
  • infantile Krabbe disease
  • intermediate Charcot-Marie-Tooth disease
  • Kearns-Sayre syndrome
  • Krabbe disease
  • late-infantile/juvenile Krabbe disease
  • Leigh syndrome
  • Leigh syndrome with cardiomyopathy
  • lipoic acid synthetase deficiency
  • long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • lower motor neuron syndrome with late-adult onset
  • maternally-inherited Leigh syndrome
  • meralgia paraesthetica, familial
  • metachromatic leukodystrophy
  • metachromatic leukodystrophy due to saposin B deficiency
  • metachromatic leukodystrophy, adult form
  • metachromatic leukodystrophy, juvenile form
  • metachromatic leukodystrophy, late infantile form
  • methylmalonic aciduria and homocystinuria type cblC
  • mitochondrial DNA depletion syndrome 1
  • mitochondrial DNA depletion syndrome 20 (mngie type)
  • mitochondrial DNA depletion syndrome 4a
  • mitochondrial DNA depletion syndrome 4b
  • mitochondrial DNA depletion syndrome 8a
  • mitochondrial neurogastrointestinal encephalomyopathy
  • MME-related autosomal dominant Charcot Marie Tooth disease type 2
  • myopathy, myofibrillar, 13, with rimmed vacuoles
  • NARP syndrome
  • necrotizing encephalomyelopathy, subacute, of Leigh, adult
  • neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
  • neurodegeneration with brain iron accumulation 2A
  • neuronopathy, distal hereditary motor, autosomal dominant
  • neuronopathy, distal hereditary motor, autosomal dominant 1
  • neuronopathy, distal hereditary motor, autosomal dominant 10
  • neuronopathy, distal hereditary motor, autosomal dominant 11
  • neuronopathy, distal hereditary motor, autosomal dominant 15
  • neuronopathy, distal hereditary motor, autosomal dominant 8
  • neuronopathy, distal hereditary motor, autosomal recessive
  • neuronopathy, distal hereditary motor, autosomal recessive 10
  • neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
  • neuronopathy, distal hereditary motor, autosomal recessive 3
  • neuronopathy, distal hereditary motor, autosomal recessive 4
  • neuronopathy, distal hereditary motor, autosomal recessive 5
  • neuronopathy, distal hereditary motor, autosomal recessive 7
  • neuronopathy, distal hereditary motor, autosomal recessive 8
  • neuronopathy, distal hereditary motor, autosomal recessive 9
  • neuronopathy, distal hereditary motor, type 2A
  • neuronopathy, distal hereditary motor, type 2B
  • neuronopathy, distal hereditary motor, type 2C
  • neuronopathy, distal hereditary motor, type 2D
  • neuronopathy, distal hereditary motor, type 5
  • neuronopathy, distal hereditary motor, type 5A
  • neuronopathy, distal hereditary motor, type 5B
  • neuronopathy, distal hereditary motor, type 5C
  • neuronopathy, distal hereditary motor, type 7A
  • neuronopathy, distal hereditary motor, type 7B
  • neuronopathy, distal hereditary motor, type 9
  • neuropathy with hearing impairment
  • neuropathy, congenital hypomelinating
  • neuropathy, congenital hypomyelinating, 2
  • neuropathy, congenital hypomyelinating, 3
  • neuropathy, hereditary motor and sensory, type 6A
  • neuropathy, hereditary motor and sensory, type 6B
  • neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
  • neuropathy, hereditary sensory and autonomic, type 1A
  • neuropathy, hereditary sensory and autonomic, type 1C
  • neuropathy, hereditary sensory and autonomic, type 2A
  • neuropathy, hereditary sensory and autonomic, type 2B
  • neuropathy, hereditary sensory and autonomic, type IId
  • neuropathy, hereditary sensory, atypical
  • neuropathy, hereditary sensory, type 1D
  • neuropathy, hereditary sensory, type 1F
  • neuropathy, hereditary sensory, type 2C
  • Niemann-Pick disease type B
  • non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
  • non-Zellweger spectrum disorder
  • optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
  • ornithine aminotransferase deficiency
  • oxoglutaricaciduria
  • PERCHING syndrome
  • peripheral motor neuropathy, childhood-onset, biotin-responsive
  • peroxisome biogenesis disorder
  • peroxisome biogenesis disorder 10A (Zellweger)
  • peroxisome biogenesis disorder 10B
  • peroxisome biogenesis disorder 11A (Zellweger)
  • peroxisome biogenesis disorder 11B
  • peroxisome biogenesis disorder 12A (Zellweger)
  • peroxisome biogenesis disorder 13A (Zellweger)
  • peroxisome biogenesis disorder 14B
  • peroxisome biogenesis disorder 1A (Zellweger)
  • peroxisome biogenesis disorder 1B
  • peroxisome biogenesis disorder 2A (Zellweger)
  • peroxisome biogenesis disorder 2B
  • peroxisome biogenesis disorder 3A (Zellweger)
  • peroxisome biogenesis disorder 4A (Zellweger)
  • peroxisome biogenesis disorder 4B
  • peroxisome biogenesis disorder 5A (Zellweger)
  • peroxisome biogenesis disorder 5B
  • peroxisome biogenesis disorder 6A (Zellweger)
  • peroxisome biogenesis disorder 6B
  • peroxisome biogenesis disorder 7A (Zellweger)
  • peroxisome biogenesis disorder 7B
  • peroxisome biogenesis disorder 8A (Zellweger)
  • peroxisome biogenesis disorder 8B
  • peroxisome biogenesis disorder 9B
  • peroxisome biogenesis disorder due to PEX1 defect
  • peroxisome biogenesis disorder due to PEX10 defect
  • peroxisome biogenesis disorder due to PEX11B defect
  • peroxisome biogenesis disorder due to PEX12 defect
  • peroxisome biogenesis disorder due to PEX13 defect
  • peroxisome biogenesis disorder due to PEX14 defect
  • peroxisome biogenesis disorder due to PEX16 defect
  • peroxisome biogenesis disorder due to PEX19 defect
  • peroxisome biogenesis disorder due to PEX2 defect
  • peroxisome biogenesis disorder due to PEX26 defect
  • peroxisome biogenesis disorder due to PEX3 defect
  • peroxisome biogenesis disorder due to PEX5 defect
  • peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
  • peroxisome biogenesis disorder due to PEX6 defect
  • peroxisome biogenesis disorder due to PEX7 defect
  • peroxisome biogenesis disorder type 3B
  • peroxisome biogenesis disorder, complementation group 2
  • peroxisome biogenesis disorder, complementation group 3
  • peroxisome biogenesis disorder, complementation group K
  • PHARC syndrome
  • polyneuropathy-hand defect syndrome
  • primary CD59 deficiency
  • primary coenzyme Q10 deficiency 8
  • progressive demyelinating neuropathy with bilateral striatal necrosis
  • proximal spinal muscular atrophy
  • PRPS1 deficiency disorder
  • pyruvate dehydrogenase deficiency
  • pyruvate dehydrogenase E1-alpha deficiency
  • pyruvate dehydrogenase E1-beta deficiency
  • pyruvate dehydrogenase E2 deficiency
  • pyruvate dehydrogenase E3 deficiency
  • pyruvate dehydrogenase E3-binding protein deficiency
  • pyruvate dehydrogenase phosphatase deficiency
  • rhizomelic chondrodysplasia punctata type 1
  • rhizomelic chondrodysplasia punctata type 5
  • Riley-Day syndrome
  • Sandhoff disease
  • Sandhoff disease, adult form
  • Sandhoff disease, infantile form
  • Sandhoff disease, juvenile form
  • sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
  • severe early-onset axonal neuropathy due to MFN2 deficiency
  • spinal muscular atrophy, distal, autosomal recessive, 6
  • spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • spinal muscular atrophy, type 1
  • spinal muscular atrophy, type II
  • spinal muscular atrophy, type III
  • spinal muscular atrophy, type IV
  • spinocerebellar ataxia with epilepsy
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • Tay-Sachs disease
  • Tay-Sachs disease, B variant, adult form
  • Tay-Sachs disease, b variant, infantile form
  • Tay-Sachs disease, b variant, juvenile form
  • Tay-Sachs disease, B1 variant
  • VPS13A-related neurodegenerative disease
  • X-linked distal spinal muscular atrophy type 3
  • X-linked hereditary sensory and autonomic neuropathy with hearing loss
  • Zellweger spectrum disorders
MONDO:0020127Orphanet 98497MedGen 1825937Fontes: [1][4][5][6]

Limitações

  • A neuropatia hereditária mais comum, a doença de Charcot-Marie-Tooth tipo 1A, é causada por uma duplicação do gene PMP22, que não está abrangido por este relatório e não é detetada pela análise de pequenas variantes. Um resultado negativo não exclui uma neuropatia hereditária.

Referências

  1. Charcot-Marie-Tooth disease. MedlinePlus Genetics
  2. Vallat JM, Tazir M, Calvo J, Funalot B, 2009. [Hereditary peripheral neuropathies]. Presse medicale (Paris, France : 1983)
  3. Liu XX, Duan XH, Zhang S, Sun AP, Zhang YS, Fan DS, 2022. [Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
  4. Ghosh S, Tourtellotte WG, 2021. The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy. Annual review of pathology
  5. Tazir M, Nouioua S, 2024. Distal hereditary motor neuropathies. Revue neurologique
  6. Liu L, Zhang R, 2015. Intermediate Charcot-Marie-Tooth disease. Neuroscience bulletin
  7. Opal P, 2003. GAN-Related Neurodegeneration. GeneReviews
  8. Hentati F, Hentati E, Amouri R, 2014. Giant axonal neuropathy. Handbook of clinical neurology
  9. Giant axonal neuropathy. MedlinePlus Genetics
  10. Harutyunyan L, Callaerts P, Vermeer S, 2024. PHARC syndrome: an overview. Orphanet journal of rare diseases
  11. Ichu TA, Reed A, Ogasawara D, Ulanovskaya O, Roberts A, Aguirre CA et al., 2021. ABHD12 and LPCAT3 Interplay Regulates a Lyso-phosphatidylserine-C20:4 Phosphatidylserine Lipid Network Implicated in Neurological Disease. Biochemistry
  12. Long X, Xiong W, Wang X, Geng J, Zhong M, Huang Y et al., 2024. Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants. BMC medical genomics
  13. de Brouwer APM, Christodoulou J, 2008. Phosphoribosylpyrophosphate Synthetase Deficiency. GeneReviews

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