Disease #02501 (SPG11 (paraplegia, spastic, autosomal recessive, type 11 (SPG-11)), OMIM:604360)

Official abbreviation SPG11
Name paraplegia, spastic, autosomal recessive, type 11 (SPG-11)
OMIM ID 604360
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 39
Phenotype entries for this disease 37
Associated with 1 gene SPG11
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

39 entries on 1 page. Showing entries 1 - 39.
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00039356 - - - - - Greece - - - - - SPG11 - SPG11 SPG11 1 1 David Lynch
00039357 - - - - - Greece - - - - - SPG11 - SPG11 SPG11 2 1 David Lynch
00046996 - - - - - - - - - - - SPG11 - SPG11 SPG11 1 1 David Lynch
00046997 - - - - - - - - - - - SPG11 - SPG11 SPG11 1 1 David Lynch
00046998 - - - - - - - - - - - SPG11 - SPG11 SPG11 1 1 David Lynch
00046999 - - - - - - - - - - - SPG11 - SPG11 SPG11 1 1 David Lynch
00059134 - - family, 5 affecteds (3 affected siblings, 1 cousin), unaffected heterozygous carrier parents, heterozygous in 7 healthy related individuals F yes (France);Sudan African Arabs - - yes - SPG11 spastic paraplegia, ataxia, cognitive deficit, atrophy of the corpus callosum, motor demyelination mixed with axonal degeneration CYP2U1, CYP7B1, GBA2, SACS, SPG11, ZFYVE26 SPG11 1 5 Mahmoud Koko
00059230 - - family, 5 affecteds and several unaffected heterozygous carriers F yes (France);Sudan - - - yes - SPG11 spastic paraplegia, ataxia, dysarthria CYP2U1, CYP7B1, GBA2, SACS, SPG11, ZFYVE26 SPG11 1 5 Mahmoud Koko
00059232 - - - M yes (France);Sudan - - - yes - SPG11 spastic paraplegia, muscle wasting, ataxia, dysarthria, hypokinesia, rigidity - SPG11 1 2 Mahmoud Koko
00059264 - - - ? ? Poland - - - - - SPG11 - SPG11 SPG11 1 1 Christian Beetz
00059265 - - - ? no Poland - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059266 - - - ? no Poland - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059267 - - - ? no Poland - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059268 - - - ? no Poland - - - - - SPG11 - SPG11 SPG11 1 1 Christian Beetz
00059269 - - - ? no Poland - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059270 - - - ? no Germany - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059271 - - - ? no Germany - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059272 - - - ? no Germany - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059273 - - - ? no Germany - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059274 - - - ? no United States - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00059275 - - - ? no Germany - - - - - SPG11 - SPG11 SPG11 2 1 Christian Beetz
00081079 - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - SPG11 Spastic paraplegia 11, autosomal recessive (OMIM:604360) SPG11 SPG11 1 1 Daniel Trujillano
00361900 - - - - - - - - - - - MPS3A, SPG11 Intellectual delay, coarse face, enzyme assay suggestive of Sanfilipo disease - SGSH, SPG11 2 1 Anju Shukla
00361901 - - - - - - - - - - - MC1DN, SPG11 Neuroregression following viral illness, hypotonia, normal deep tendon reflexes - NDUFAF6, SPG11 3 1 Anju Shukla
00372760 179077 - - F ? Germany - - - - - SPG11 Spastic paraparesis and paraplegia SPG11 SPG11 2 1 Andreas Laner
00403889 - family, patient and brother with similar condition - F - Egypt - - - - - SPG11 delayed mental and physical development, spastic lower limbs, hyperreflexia, Babinski sign, intact abdominal reflex, pes cavus; brother with similar condition SPG11 SPG11 1 2 Sherifa Ahmed Hamed
00403897 - family, female with two older sisters with similar condition - F yes Egypt - - - - - SPG11 11y-developed illness, spastic lower limbs, hyperreflexia, intact abdominal reflexes, Babinski sign, bilateral pes cavus; two older sisters with similar condition SPG11 SPG11 1 3 Sherifa Ahmed Hamed
00403909 - - - M yes Egypt - - - - - SPG11 spastic lower limbs, cerebellar ataxia, pes cavus SPG11 SPG11 1 1 Sherifa Ahmed Hamed
00403923 - - - F yes Egypt - - - - - SPG11 Progressive spastic paraparesis SPG11 SPG11 1 1 Sherifa Ahmed Hamed
00403925 - - - M yes Egypt - - - - - SPG11 Progressive spastic paraparesis SPG11 SPG11 1 1 Sherifa Ahmed Hamed
00404047 - - - M yes Egypt - - - - - SPG11 22-y with progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy and pes cavus. Nerve conduction velocity study showed demyelinating peripheral neuropathy SPG11 SPG11 1 3 Sherifa Ahmed Hamed
00404048 - - - M yes Egypt - - - - - SPG11 16-y male with progressive cerebellar ataxia and peripheral neuropathy. Neurological examination revealed intention tremors, staccato speech, pes cavus, stocking and glove hypesthesia, exaggerated knee reflex and Babinski sign SPG11 SPG11 1 2 Sherifa Ahmed Hamed
00404058 - - - M yes Egypt - - - - - SPG11 36-y man with progressive spastic paraparesis. Neurological examination showed spastic lower limbs, pes cavus and peripheral neuropathy. Nerve conduction velocity study showed demyelinating peripheral Neuropathy SPG11 SPG11 1 4 Sherifa Ahmed Hamed
00404063 - - - F - Egypt - - - - - SPG11 20-y female with progressive spastic paraparesis, pes cavus, peripheral neuropathy, mild/moderate mental subnormality. SPG11 SPG11 1 2 Sherifa Ahmed Hamed
00404099 - - - F yes Egypt - - - - - SPG11 34-y female with progressive spasticity in both lower limbs and cognitive deterioration and stocking and glove hypesthesia. SPG11 SPG11 1 2 Sherifa Ahmed Hamed
00404100 - - - M yes Egypt - - - - - SPG11 42-y man with progressive spastic lower limbs, slurred speech and bilateral pes cavus. SPG11 SPG11 1 3 Sherifa Ahmed Hamed
00404101 - - - M yes Egypt - - - - - SPG11 18-y male with progressive weakness and spasticity of both lower limbs, cognitive deterioration, limb ataxia, peripheral neuropathy and bilateral pes cavus. He had history of delayed mental and motor development. SPG11 SPG11 1 3 Sherifa Ahmed Hamed
00404102 - - - F yes Egypt - - - - - SPG11 38-y woman with progressive weakness and spasticity of both lower limbs, mild hand weakness and bilateral pes cavus. SPG11 SPG11 1 1 Sherifa Ahmed Hamed
00442605 RDHR07 - - - yes Pakistan - - - - - SPG11 - SPG11 SPG11 1 3 Sadaf Naz
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