Cerebral cortical atrophy

Symptom Information:

Symptom ID: HPO:0002120
Synonyms:
Cerebral cortex atrophy [HPO:0002120]
Cortical atrophy [HPO:0002120]
Cerebral cortical atrophy without hydrocephaly [Orphanet:42420]
Cerebral atrophy (disorder) [Orphanet:42420]
Cerebral atrophy [Orphanet:42420]
Cerebral cortex atrophy [OMIM:Cerebral cortex atrophy]
Cerebral cortical atrophy [OMIM:Cerebral cortical atrophy]
Cortical atrophy [OMIM:Cortical atrophy]
Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy [Orphanet:42420]
Cerebral atrophy [MedDRA:10008096]
Circumscribed cerebral atrophy [MedDRA:10008096]
Cerebral atrophy (1 patient) [OMIM:Cerebral atrophy (1 patient)]
Cerebral atrophy (in 1 family) [OMIM:Cerebral atrophy (in 1 family)]
Cerebral atrophy (in severe cases) [OMIM:Cerebral atrophy (in severe cases)]
Cerebral atrophy (in some patients) [OMIM:Cerebral atrophy (in some patients)]
Cerebral atrophy (rare) [OMIM:Cerebral atrophy (rare)]
Cerebral atrophy (reported in 1 patient) [OMIM:Cerebral atrophy (reported in 1 patient)]
Cortical atrophy (43%) [OMIM:Cortical atrophy (43%)]
Cortical atrophy (frontal area) [OMIM:Cortical atrophy (frontal area)]
Cortical atrophy (in 2 siblings) [OMIM:Cortical atrophy (in 2 siblings)]
Subcortical atrophy [Orphanet:42420]
Subcortical atrophy (in some patients) [OMIM:Subcortical atrophy (in some patients)]
Quality:
Cross references:
Orphanet:42420 "Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy" [Orphanet:42420]
OMIM: "Cerebral cortex atrophy" [OMIM:Cerebral cortex atrophy]
OMIM: "Cerebral cortical atrophy" [OMIM:Cerebral cortical atrophy]
OMIM: "Cortical atrophy" [OMIM:Cortical atrophy]
OMIM: "Cerebral atrophy (1 patient)" [OMIM:Cerebral atrophy (1 patient)]
OMIM: "Cerebral atrophy (in 1 family)" [OMIM:Cerebral atrophy (in 1 family)]
OMIM: "Cerebral atrophy (in severe cases)" [OMIM:Cerebral atrophy (in severe cases)]
OMIM: "Cerebral atrophy (in some patients)" [OMIM:Cerebral atrophy (in some patients)]
OMIM: "Cerebral atrophy (rare)" [OMIM:Cerebral atrophy (rare)]
OMIM: "Cerebral atrophy (reported in 1 patient)" [OMIM:Cerebral atrophy (reported in 1 patient)]
OMIM: "Cortical atrophy (43%)" [OMIM:Cortical atrophy (43%)]
OMIM: "Cortical atrophy (frontal area)" [OMIM:Cortical atrophy (frontal area)]
OMIM: "Cortical atrophy (in 2 siblings)" [OMIM:Cortical atrophy (in 2 siblings)]
OMIM: "Subcortical atrophy (in some patients)" [OMIM:Subcortical atrophy (in some patients)]
UMLS:C0235946 "Cerebral atrophy" [Orphanet:42420]
Is a (Direct Parents):
HPO         Cerebral atrophy
Orphanet Structural anomalies of the nervous system
MedDRA Structural brain disorders NEC
Is a (Whole tree): HPO:
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Structural brain disorders(MedDRA:10042258)
       Structural brain disorders NEC(MedDRA:10042259)
          Cerebral cortical atrophy(HPO:0002120)
Database Frequency: 187 / 7739
Resource:

All diseases associated with this symptom:

17q12 microdeletion syndrome (Orphanet:261265)
1p36 deletion syndrome (Orphanet:1606)
2q31.1 microdeletion syndrome (Orphanet:251014)
3-hydroxyisobutyric aciduria (Orphanet:939)
5q14.3 microdeletion syndrome (Orphanet:228384)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
ALZHEIMER DISEASE 10 (OMIM:609636)
ALZHEIMER DISEASE 3 (OMIM:607822)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acrodermatitis enteropathica, zinc deficiency type (Orphanet:37)
Adenylosuccinate lyase deficiency (Orphanet:46)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Angelman syndrome (Orphanet:72)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia (Orphanet:34149)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 26 (Orphanet:101006)
Autosomal recessive spastic paraplegia type 48 (Orphanet:306511)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 (OMIM:615007)
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA (OMIM:113610)
Baraitser-Winter syndrome (Orphanet:2995)
Behavioral variant of frontotemporal dementia (Orphanet:275864)
Beta-mannosidosis (Orphanet:118)
Bohring-Opitz syndrome (Orphanet:97297)
CADASIL (Orphanet:136)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CEREBROCORTICAL DEGENERATION OF INFANCY (OMIM:213950)
CHILD syndrome (Orphanet:139)
COFS syndrome (Orphanet:1466)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Central nervous system calcification - deafness - tubular acidosis - anemia (Orphanet:3240)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital disorder of glycosylation (Orphanet:137)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Cornelia de Lange syndrome (Orphanet:199)
Costello syndrome (Orphanet:3071)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
D-glyceric aciduria (Orphanet:941)
DK1-CDG (Orphanet:91131)
DYSTONIA 23 (OMIM:614860)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Deafness - onychodystrophy (Orphanet:3231)
Dravet syndrome (Orphanet:33069)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Fetal brain disruption sequence (Orphanet:1665)
Fetal varicella syndrome (Orphanet:291)
Fine-Lubinsky syndrome (Orphanet:1272)
Flynn-Aird syndrome (Orphanet:2047)
Fragile X syndrome (Orphanet:908)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Fryns syndrome (Orphanet:2059)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Goldenhar syndrome (Orphanet:374)
Griscelli disease (Orphanet:381)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Harrod syndrome (Orphanet:2115)
Histidinuria - renal tubular defect (Orphanet:2158)
Homocystinuria without methylmalonic aciduria (Orphanet:622)
Hoyeraal-Hreidarsson syndrome (Orphanet:3322)
Huntington disease (Orphanet:399)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Incontinentia pigmenti (Orphanet:464)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Infantile spasms - broad thumbs (Orphanet:3173)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Cantagrel type (Orphanet:85277)
Jacobsen syndrome (Orphanet:2308)
Juvenile primary lateral sclerosis (Orphanet:247604)
Kabuki syndrome (Orphanet:2322)
Keratosis follicularis - dwarfism - cerebral atrophy (Orphanet:2339)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Knobloch syndrome (Orphanet:1571)
Late infantile neuronal ceroid lipofuscinosis (Orphanet:168491)
Lathosterolosis (Orphanet:46059)
Leukocyte adhesion deficiency (Orphanet:2968)
Leukocyte adhesion deficiency type II (Orphanet:99843)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Leukoencephalopathy-palmoplantar keratoderma syndrome (Orphanet:2386)
MEDULLARY CYSTIC KIDNEY DISEASE 1 (OMIM:174000)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 (OMIM:613156)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Mevalonic aciduria (Orphanet:29)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Micro syndrome (Orphanet:2510)
Microcephaly - brain defect - spasticity - hypernatremia (Orphanet:2523)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 22q13 (Orphanet:48652)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
Nasu-Hakola disease (Orphanet:2770)
Neuroectodermal melanolysosomal disease (Orphanet:33445)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
Norrie disease (Orphanet:649)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Odontoleukodystrophy (Orphanet:77295)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 4 (Orphanet:2753)
PEHO syndrome (Orphanet:2836)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Pelizaeus-Merzbacher disease (Orphanet:702)
Penoscrotal transposition (Orphanet:2842)
Perrault Syndrome (Orphanet:2855)
Peters-plus syndrome (Orphanet:709)
Phakomatosis pigmentovascularis (Orphanet:2875)
Pontocerebellar hypoplasia type 1 (Orphanet:2254)
Pontocerebellar hypoplasia type 2 (Orphanet:2524)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Port-wine nevi - mega cisterna magna - hydrocephalus (Orphanet:2703)
Primary cutis verticis gyrata (Orphanet:671)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Progressive non-fluent aphasia (Orphanet:100070)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Pyridoxine-dependent epilepsy (Orphanet:3006)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Renal cysts and diabetes syndrome (Orphanet:93111)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Rett syndrome (Orphanet:778)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Riboflavin transporter deficiency (Orphanet:97229)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
Short rib-polydactyly syndrome (Orphanet:1505)
Spinocerebellar ataxia type 12 (Orphanet:98762)
Sturge-Weber syndrome (Orphanet:3205)
TENORIO SYNDROME (OMIM:616260)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
Toriello-Carey syndrome (Orphanet:3338)
Usher syndrome (Orphanet:886)
Usher syndrome type 1 (Orphanet:231169)
Usher syndrome type 2 (Orphanet:231178)
Vici syndrome (Orphanet:1493)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Williams syndrome (Orphanet:904)
Wolfram syndrome (Orphanet:3463)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit, Najm type (Orphanet:163937)
Xeroderma pigmentosum (Orphanet:910)
Yunis-Varon syndrome (Orphanet:3472)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (OMIM:607259)