Disease #01972

Official abbreviation neuropsthy (CCT5)
Name neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive
OMIM ID 256840
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 7
Phenotype entries for this disease 6
Associated with 1 gene CCT5
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00056404 - - MGZ 99441 F ? Germany german - 0 - - neuropsthy (CCT5) progressive (painfull) demyelinisating polyneuropathy; starting at age 41y, (differentialdiagnosis: M. Fabry) - FAM13B 1 122 Andreas Laner
00095123 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affecteds, 2 unaffected siblings, 2 unaffected heterozygous carrier parents (consanguineous), 1098-IV-3 M - - - - 0 added by student Merel van Kan - neuropsthy (CCT5) tiptoe walking (HP0030051)spasticity of lower limbs (HP0002061)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)absent achilles reflex (HP0003438)no plantar tendon reflex (-HP:0003487)no babinski sign (-HP0003487)abnormal gait (HP0001288)no amyotrophy (-HP0003202)no fasciculations (-HP0002380)vibration sense at ankles (HP0006938)no sensory loss (-HP0010835)no skeletal deformities (-HP0000924)no sphincter deformities (-HP0002839)normal brain MRI (-HP0002500)N/A spinal MRI (-HP0002143)flexion contractures of knees (HP0006380) ERLIN1 ERLIN1 1 2 Johan den Dunnen
00095124 - PubMed: Novarino 2014, Journal: Novarino 2014 brother of 1098-IV-3 M - - - - 0 added by student Merel van Kan - neuropsthy (CCT5) tiptoe walking (HP0030051)spasticity (HP0001257)no dysarthria (-HP0001260)spastic gait (HP0002064)no cerebellar signs (-HP0001317)increased deep tendon reflex in lower limbs (HP0002395)no babinski sign (-HP0003487)abnormal gait (HP0001288)no amyotrophy (-HP0003202)no fasciculations (-HP0002380)vibration sense at ankles (HP0006938)no sensory loss (-HP0010835)no skeletal deformities (-HP0000924)no sphincter deformities (-HP0002839)normal brain MRI (-HP0002500)N/A spinal MRI (-HP0002143)flexion contractures of knees (HP0006380) ERLIN1 ERLIN1 1 1 Johan den Dunnen
00095132 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents, patient 789IV-1 F yes - - - 0 added by student Anneliz de Leeuw - neuropsthy (CCT5) Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann's sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), No spinal abnormalities (-HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668), Ptosis (HP:0000508) KIF1C KIF1C 1 4 Johan den Dunnen
00095133 - PubMed: Novarino 2014, Journal: Novarino 2014 brother of 789IV-1 M yes - - - 0 added by student Anneliz de Leeuw - neuropsthy (CCT5) Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann's sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), Unknown spinal abnormalities (?HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668) KIF1C KIF1C 1 1 Johan den Dunnen
00210053 VF PubMed: Vadgama 2019, Journal: Vadgama 2019 - F no United Kingdom (Great Britain) - - 0 - - neuropsthy (CCT5) - - ZFR2 2 1 Nirmal Vadgama
00265880 03443 - - F - Pakistan - - 0 - - neuropsthy (CCT5) - KY KY 1 1 Beenish Arif
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