NESCAVS
MCID: NSC005
MIFTS: 29

Nescav Syndrome (NESCAVS)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Nescav Syndrome

MalaCards integrated aliases for Nescav Syndrome:

Name: Nescav Syndrome 56
Mental Retardation, Autosomal Dominant 9 73 13 6
Neurodegeneration and Spasticity with or Without Cerebellar Atrophy or Cortical Visual Impairment 56
Mental Retardation, Autosomal Dominant 9, Formerly; Mrd9, Formerly 56
Mental Retardation, Autosomal Dominant 9, Formerly 56
Mrd9, Formerly 56
Nescavs 56
Mrd9 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
onset in early infancy


HPO:

31
nescav syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity progressive


Classifications:



Summaries for Nescav Syndrome

OMIM : 56 NESCAV syndrome (NESCAVS) is a neurodegenerative disorder characterized by onset of features in infancy or early childhood. Affected individuals show global developmental delay with delayed walking or difficulty walking due to progressive spasticity mainly affecting the lower limbs and often leading to loss of independent ambulation. There is variably impaired intellectual development, speech delay, learning disabilities and/or behavioral abnormalities. Additional features may include cortical visual impairment, often associated with optic atrophy, axonal peripheral neuropathy, seizures, dysautonomia, ataxia, and dystonia. Brain imaging often shows progressive cerebellar atrophy and thin corpus callosum. Some patients may show developmental regression, particularly of motor skills. The phenotype and presentation are highly variable (summary by Nemani et al., 2020). (614255)

MalaCards based summary : Nescav Syndrome, also known as mental retardation, autosomal dominant 9, is related to autosomal dominant non-syndromic intellectual disability 9. An important gene associated with Nescav Syndrome is KIF1A (Kinesin Family Member 1A). Affiliated tissues include brain, and related phenotypes are optic atrophy and flexion contracture

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 9: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

Related Diseases for Nescav Syndrome

Diseases related to Nescav Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 9 11.3

Symptoms & Phenotypes for Nescav Syndrome

Human phenotypes related to Nescav Syndrome:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 occasional (7.5%) HP:0000648
2 flexion contracture 31 occasional (7.5%) HP:0001371
3 nystagmus 31 occasional (7.5%) HP:0000639
4 talipes equinovarus 31 occasional (7.5%) HP:0001762
5 cerebral atrophy 31 occasional (7.5%) HP:0002059
6 generalized hypotonia 31 occasional (7.5%) HP:0001290
7 inability to walk 31 occasional (7.5%) HP:0002540
8 cerebral visual impairment 31 occasional (7.5%) HP:0100704
9 peripheral axonal neuropathy 31 occasional (7.5%) HP:0003477
10 seizure 31 occasional (7.5%) HP:0001250
11 intellectual disability 31 very rare (1%) HP:0001249
12 spasticity 31 very rare (1%) HP:0001257
13 cerebellar vermis atrophy 31 very rare (1%) HP:0006855
14 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
15 global developmental delay 31 HP:0001263
16 microcephaly 31 HP:0000252
17 absent speech 31 HP:0001344
18 hyperreflexia 31 HP:0001347
19 babinski sign 31 HP:0003487
20 cerebellar atrophy 31 HP:0001272

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
spasticity
hyperreflexia
cerebellar atrophy
extensor plantar responses
more
Head And Neck Eyes:
optic atrophy (in some patients)
nystagmus (in some patients)
cortical visual impairment (in some patients)

Skeletal:
joint contractures (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Head And Neck Head:
microcephaly

Skeletal Feet:
clubfoot (in some patients)

Neurologic Peripheral Nervous System:
peripheral axonal neuropathy (in some patients)

Clinical features from OMIM:

614255

Drugs & Therapeutics for Nescav Syndrome

Search Clinical Trials , NIH Clinical Center for Nescav Syndrome

Genetic Tests for Nescav Syndrome

Anatomical Context for Nescav Syndrome

MalaCards organs/tissues related to Nescav Syndrome:

40
Brain

Publications for Nescav Syndrome

Articles related to Nescav Syndrome:

(show all 11)
# Title Authors PMID Year
1
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement. 56 6
32096284 2020
2
Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene. 6 56
31805580 2020
3
PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex. 6 56
30385166 2019
4
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. 56 6
27034427 2016
5
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 6 56
26486474 2016
6
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. 6 56
26354034 2015
7
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 6 56
26125038 2015
8
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 56 6
25265257 2015
9
KIF1A mutation in a patient with progressive neurodegeneration. 56 6
25253658 2014
10
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 56 6
21376300 2011
11
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case. 61
30582020 2019

Variations for Nescav Syndrome

ClinVar genetic disease variations for Nescav Syndrome:

6 (show top 50) (show all 453) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF1A NM_004321.7(KIF1A):c.304G>A (p.Gly102Ser)SNV Pathogenic 422067 rs1064795534 2:241727527-241727527 2:240788110-240788110
2 KIF1A NM_004321.7(KIF1A):c.914C>T (p.Pro305Leu)SNV Pathogenic 428604 rs1131690804 2:241715312-241715312 2:240775895-240775895
3 KIF1A NM_004321.7(KIF1A):c.595G>A (p.Gly199Arg)SNV Pathogenic 449043 rs1553638614 2:241725765-241725765 2:240786348-240786348
4 KIF1A NM_004321.7(KIF1A):c.773C>T (p.Thr258Met)SNV Pathogenic 464261 rs1553638086 2:241723181-241723181 2:240783764-240783764
5 KIF1A NM_004321.7(KIF1A):c.3523C>T (p.Arg1175Ter)SNV Pathogenic 576241 rs368078424 2:241679550-241679550 2:240740133-240740133
6 KIF1A NM_004321.7(KIF1A):c.4678C>T (p.Gln1560Ter)SNV Pathogenic 664959 2:241659231-241659231 2:240719814-240719814
7 KIF1A NM_004321.7(KIF1A):c.1927C>T (p.Gln643Ter)SNV Pathogenic 568993 rs748477031 2:241702504-241702504 2:240763087-240763087
8 KIF1A NC_000002.12:g.(?_240717364)_(240797752_?)deldeletion Pathogenic 832086 2:241656781-241737169
9 KIF1A NC_000002.12:g.240797746deldeletion Pathogenic 850864 2:241737160-241737160 2:240797743-240797743
10 KIF1A NM_001244008.1:c.760C>TSNV Pathogenic 869121
11 KIF1A NM_001320705.2(KIF1A):c.920G>C (p.Arg307Pro)SNV Pathogenic 869126 2:241715306-241715306 2:240775889-240775889
12 KIF1A NM_001320705.2(KIF1A):c.813_815CAA[1] (p.Asn272del)short repeat Pathogenic 870127 2:241722507-241722509 2:240783090-240783092
13 KIF1A NM_004321.7(KIF1A):c.296C>T (p.Thr99Met)SNV Pathogenic 30169 rs387906799 2:241727535-241727535 2:240788118-240788118
14 KIF1A NM_001320705.2(KIF1A):c.2582+1023deldeletion Pathogenic 65859 rs587778791 2:241696754-241696754 2:240757337-240757337
15 KIF1A NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp)SNV Pathogenic 162060 rs672601370 2:241715280-241715280 2:240775863-240775863
16 KIF1A NM_004321.7(KIF1A):c.757G>A (p.Glu253Lys)SNV Pathogenic 162059 rs672601369 2:241723197-241723197 2:240783780-240783780
17 KIF1A NM_004321.7(KIF1A):c.643A>C (p.Ser215Arg)SNV Pathogenic 162057 rs672601367 2:241724483-241724483 2:240785066-240785066
18 KIF1A NM_004321.7(KIF1A):c.173C>T (p.Ser58Leu)SNV Pathogenic 162052 rs672601362 2:241728663-241728663 2:240789246-240789246
19 KIF1A NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys)SNV Pathogenic 208160 rs797045164 2:241724480-241724480 2:240785063-240785063
20 KIF1A NM_004321.7(KIF1A):c.265T>G (p.Tyr89Asp)SNV Pathogenic 224157 rs869312711 2:241727566-241727566 2:240788149-240788149
21 KIF1A NM_004321.7(KIF1A):c.761G>A (p.Arg254Gln)SNV Pathogenic 280500 rs886041692 2:241723193-241723193 2:240783776-240783776
22 KIF1A NM_001244008.1(KIF1A):c.647G>A (p.Arg216His)SNV Pathogenic/Likely pathogenic 208161 rs672601368 2:241724479-241724479 2:240785062-240785062
23 KIF1A NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu)SNV Pathogenic/Likely pathogenic 211298 rs797045655 2:241722504-241722504 2:240783087-240783087
24 KIF1A NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp)SNV Pathogenic/Likely pathogenic 245636 rs879253888 2:241723194-241723194 2:240783777-240783777
25 KIF1A NM_004321.7(KIF1A):c.38G>A (p.Arg13His)SNV Pathogenic/Likely pathogenic 209165 rs797045050 2:241737132-241737132 2:240797715-240797715
26 KIF1A NM_004321.7(KIF1A):c.206C>T (p.Ser69Leu)SNV Pathogenic/Likely pathogenic 188057 rs786200949 2:241727625-241727625 2:240788208-240788208
27 KIF1A NM_004321.7(KIF1A):c.604G>C (p.Ala202Pro)SNV Pathogenic/Likely pathogenic 162056 rs672601366 2:241725756-241725756 2:240786339-240786339
28 KIF1A NM_004321.7(KIF1A):c.2323C>T (p.Arg775Ter)SNV Pathogenic/Likely pathogenic 665003 2:241700176-241700176 2:240760759-240760759
29 KIF1A NM_004321.7(KIF1A):c.920G>A (p.Arg307Gln)SNV Pathogenic/Likely pathogenic 418275 rs1064793161 2:241715306-241715306 2:240775889-240775889
30 KIF1A NM_001244008.1(KIF1A):c.833T>C (p.Leu278Pro)SNV Likely pathogenic 430721 rs1131692159 2:241722492-241722492 2:240783075-240783075
31 KIF1A NM_004321.7(KIF1A):c.1871G>A (p.Arg624His)SNV Likely pathogenic 435629 rs1553633823 2:241702634-241702634 2:240763217-240763217
32 KIF1A NM_004321.7(KIF1A):c.919C>G (p.Arg307Gly)SNV Likely pathogenic 435636 rs369692236 2:241715307-241715307 2:240775890-240775890
33 KIF1A NM_004321.7(KIF1A):c.1394+2T>ASNV Likely pathogenic 532873 rs751051049 2:241709042-241709042 2:240769625-240769625
34 KIF1A NM_004321.7(KIF1A):c.4565+1G>CSNV Likely pathogenic 532856 rs1553624714 2:241660330-241660330 2:240720913-240720913
35 KIF1A NM_004321.7(KIF1A):c.2089+1G>CSNV Likely pathogenic 532854 rs1553633687 2:241702135-241702135 2:240762718-240762718
36 KIF1A NM_004321.7(KIF1A):c.4016-2A>GSNV Likely pathogenic 574244 rs1559477798 2:241662977-241662977 2:240723560-240723560
37 KIF1A NM_004321.7(KIF1A):c.609-1G>ASNV Likely pathogenic 574529 rs1559527796 2:241724518-241724518 2:240785101-240785101
38 KIF1A NM_004321.7(KIF1A):c.749C>A (p.Ala250Asp)SNV Likely pathogenic 580199 rs1559526692 2:241723205-241723205 2:240783788-240783788
39 KIF1A NM_004321.7(KIF1A):c.32G>A (p.Arg11Gln)SNV Likely pathogenic 654820 2:241737138-241737138 2:240797721-240797721
40 KIF1A NM_004321.7(KIF1A):c.506G>C (p.Arg169Thr)SNV Likely pathogenic 666256 2:241725854-241725854 2:240786437-240786437
41 KIF1A NM_001244008.1(KIF1A):c.499C>T (p.Arg167Cys)SNV Likely pathogenic 162055 rs672601365 2:241725861-241725861 2:240786444-240786444
42 KIF1A NM_001244008.1(KIF1A):c.430G>T (p.Val144Phe)SNV Likely pathogenic 162054 rs672601364 2:241725930-241725930 2:240786513-240786513
43 KIF1A NM_001244008.1(KIF1A):c.305G>A (p.Gly102Asp)SNV Likely pathogenic 162053 rs672601363 2:241727526-241727526 2:240788109-240788109
44 KIF1A NM_001244008.1(KIF1A):c.746T>A (p.Leu249Gln)SNV Likely pathogenic 162061 rs672601371 2:241723208-241723208 2:240783791-240783791
45 KIF1A NC_000002.12:g.240797649G>TSNV Likely pathogenic 864523 2:241737066-241737066 2:240797649-240797649
46 KIF1A NM_004321.7(KIF1A):c.799G>C (p.Glu267Gln)SNV Likely pathogenic 645308 2:241722526-241722526 2:240783109-240783109
47 KIF1A NM_004321.7(KIF1A):c.1032G>A (p.Thr344=)SNV Conflicting interpretations of pathogenicity 705618 2:241713605-241713605 2:240774188-240774188
48 KIF1A NM_004321.7(KIF1A):c.789G>A (p.Thr263=)SNV Conflicting interpretations of pathogenicity 706564 2:241723165-241723165 2:240783748-240783748
49 KIF1A NM_004321.7(KIF1A):c.2676C>T (p.Ala892=)SNV Conflicting interpretations of pathogenicity 129388 rs116297894 2:241686737-241686737 2:240747320-240747320
50 KIF1A NM_004321.7(KIF1A):c.223C>T (p.Arg75Trp)SNV Conflicting interpretations of pathogenicity 191158 rs778224699 2:241727608-241727608 2:240788191-240788191

UniProtKB/Swiss-Prot genetic disease variations for Nescav Syndrome:

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 KIF1A p.Thr99Met VAR_066649 rs387906799
2 KIF1A p.Ser58Leu VAR_075472 rs672601362
3 KIF1A p.Gly102Asp VAR_075473 rs672601363
4 KIF1A p.Val144Phe VAR_075475 rs672601364
5 KIF1A p.Arg167Cys VAR_075476 rs672601365
6 KIF1A p.Ala202Pro VAR_075478 rs672601366
7 KIF1A p.Ser215Arg VAR_075480 rs672601367
8 KIF1A p.Arg216Cys VAR_075481 rs797045164
9 KIF1A p.Arg216His VAR_075482 rs672601368
10 KIF1A p.Arg216Pro VAR_075483 rs672601368
11 KIF1A p.Leu249Gln VAR_075486 rs672601371
12 KIF1A p.Glu253Lys VAR_075487 rs672601369
13 KIF1A p.Arg316Trp VAR_075488 rs672601370
14 KIF1A p.Arg350Gly VAR_075490 rs387907259

Expression for Nescav Syndrome

Search GEO for disease gene expression data for Nescav Syndrome.

Pathways for Nescav Syndrome

GO Terms for Nescav Syndrome

Sources for Nescav Syndrome

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