CEDNIK
MCID: CRB069
MIFTS: 50

Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome (CEDNIK)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

MalaCards integrated aliases for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

Name: Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 56 52 73 29 13 6 43 39 71
Cednik Syndrome 56 12 52 58 73 36 15
Neurocutaneous Syndromes 43 71
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome 58
Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome 12
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome 74
Cednik 73

Characteristics:

Orphanet epidemiological data:

58
cednik syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

31
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 66631 Definition CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Epidemiology It has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families. Clinical description Clinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. Etiology It is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion. Genetic counseling The disease is inherited as an autosomal recessive condition. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, also known as cednik syndrome, is related to mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma and neurocutaneous syndrome with epilepsy. An important gene associated with Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome is SNAP29 (Synaptosome Associated Protein 29), and among its related pathways/superpathways are SNARE interactions in vesicular transport and Vesicle-mediated transport. Affiliated tissues include brain, eye and skin, and related phenotypes are hypertelorism and intellectual disability

Disease Ontology : 12 An autosomal recessive disease that has material basis in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.

OMIM : 56 CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome refers to a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis. Brain magnetic resonance imaging (MRI) shows various degrees of cerebral dysgenesis including absence of corpus callosum and cortical dysplasia. The syndrome has been found to be uniformly fatal between the ages of 5 and 12 years (Fuchs-Telem et al., 2011). (609528)

KEGG : 36 CEDNIK (Cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare condition that shows severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis. Decreased expression of SNAP29, a member of the SNARE family of proteins, is linked to abnormal lamellar granule maturation and abnormal epidermal differentiation.

UniProtKB/Swiss-Prot : 73 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.

Wikipedia : 74 Cerebral dysgenesis-neuropathy-ichthyosis-keratoderma syndrome is a neurocutaneous condition caused by... more...

Related Diseases for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 31.7 VWC2L SNAP29 AP1S1
2 neurocutaneous syndrome with epilepsy 12.2
3 cutis laxa, autosomal recessive, type iiia 11.7
4 sturge-weber syndrome 11.5
5 hypomelanosis of ito 11.5
6 phace association 11.5
7 west syndrome 11.5
8 gomez-lopez-hernandez syndrome 11.5
9 trichothiodystrophy 4, nonphotosensitive 11.4
10 melkersson-rosenthal syndrome 11.2
11 lymphangioleiomyomatosis 11.2
12 tuberous sclerosis 10.5
13 ichthyosis 10.5
14 neurofibromatosis, type iv, of riccardi 10.5
15 lipomatosis 10.3
16 weber syndrome 10.3
17 encephalocraniocutaneous lipomatosis 10.3
18 digeorge syndrome 10.2
19 microcephaly 10.2
20 tuberous sclerosis 1 10.2
21 incontinentia pigmenti 10.2
22 obsolete: ito hypomelanosis 10.2
23 ataxia and polyneuropathy, adult-onset 10.2
24 alopecia 10.2
25 ataxia-telangiectasia 10.1
26 telangiectasis 10.1
27 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
28 apraxia 10.1
29 palmoplantar keratosis 10.1
30 polymicrogyria 10.1
31 keratosis 10.1
32 neuropathy 10.1
33 erythrokeratoderma ''en cocardes'' 10.1
34 rare genetic skin disease 10.1
35 von hippel-lindau syndrome 10.1
36 hemangioma 10.1
37 hypotonia 10.1
38 nevus, epidermal 10.0
39 arteriovenous malformation 10.0
40 seizure disorder 10.0
41 plantar wart 9.9 AP1S1 AAGAB
42 basal cell nevus syndrome 9.9
43 coloboma of macula 9.9
44 keratitis, hereditary 9.9
45 klippel-trenaunay-weber syndrome 9.9
46 lipomatosis, multiple 9.9
47 sjogren-larsson syndrome 9.9
48 spastic paraplegia 23, autosomal recessive 9.9
49 alopecia, congenital 9.9
50 branchiootic syndrome 1 9.9

Graphical network of the top 20 diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:



Diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

Symptoms & Phenotypes for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Human phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
6 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
9 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
10 poor head control 58 31 hallmark (90%) Very frequent (99-80%) HP:0002421
11 diffuse palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007435
12 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
13 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
14 abnormality of peripheral nerve conduction 58 31 frequent (33%) Frequent (79-30%) HP:0003134
15 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
16 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
17 polymicrogyria 58 31 frequent (33%) Frequent (79-30%) HP:0002126
18 pachygyria 58 31 frequent (33%) Frequent (79-30%) HP:0001302
19 abnormal corpus callosum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001273
20 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
21 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
22 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
23 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
24 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
25 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
26 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
27 dolichocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000268
28 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
29 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
30 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
31 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
32 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
33 failure to thrive 31 HP:0001508
34 muscular hypotonia 31 HP:0001252
35 depressed nasal bridge 31 HP:0005280
36 wide nasal bridge 31 HP:0000431
37 abnormality of the eye 58 Occasional (29-5%)
38 intellectual disability, severe 31 HP:0010864
39 palmoplantar keratoderma 31 HP:0000982
40 intellectual disability, progressive 31 HP:0006887
41 polyneuropathy 31 HP:0001271
42 cortical dysplasia 31 HP:0002539
43 optic disc hypoplasia 31 HP:0007766
44 progressive microcephaly 31 HP:0000253

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Neurologic Peripheral Nervous System:
areflexia
peripheral neuropathy

Neurologic Central Nervous System:
polymicrogyria
pachygyria
poor head control
cortical dysplasia
mental retardation, severe
more
Head And Neck Eyes:
downslanting palpebral fissures
hypoplastic optic discs
hypertelorism, mild

Head And Neck Nose:
flat, broad nasal root

Skin Nails Hair Skin:
ichthyosis
palmoplantar keratoderma

Head And Neck Face:
long face

Head And Neck Ears:
sensorineural deafness

Head And Neck Head:
microcephaly, progressive

Skin Nails Hair Skin Histology:
spinous, granular, and stratum corneum layers contain clear vesicles
abnormal lamellar granule maturation
abnormal distribution of glucosylceramides

Clinical features from OMIM:

609528

GenomeRNAi Phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.77 RAB3A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.77 RAB3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.77 PRODH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.77 PRODH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.77 STX6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.77 RAB3A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.77 RAB3A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.77 STX6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.77 PRODH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.77 PRODH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.77 PRODH RAB3A STX6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.77 PRODH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.77 PRODH
14 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.77 RAB3A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.77 STX6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.77 RAB3A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.77 PRODH
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.77 STX6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.77 PRODH
20 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.77 STX6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.77 PRODH
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.77 RAB3A
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.77 STX6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 STX6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.77 PRODH
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.77 PRODH

Drugs & Therapeutics for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dermatologic Clinical Patterns Study of Tuberous Sclerosis Complex Patients Related With Their Somatic Mutation Recruiting NCT04112537

Search NIH Clinical Center for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

Cochrane evidence based reviews: neurocutaneous syndromes

Genetic Tests for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Genetic tests related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

# Genetic test Affiliating Genes
1 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 29 SNAP29

Anatomical Context for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

MalaCards organs/tissues related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

40
Brain, Eye, Skin, Heart, Adrenal Gland, Tongue

Publications for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Articles related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

(show all 11)
# Title Authors PMID Year
1
CEDNIK syndrome results from loss-of-function mutations in SNAP29. 61 56 6
21073448 2011
2
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. 61 56 6
15968592 2005
3
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD). 61
31748968 2019
4
Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome. 61
31925187 2019
5
CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. 61
30793783 2019
6
A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development. 61
30718891 2019
7
Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome. 61
31633066 2019
8
NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes. 61
29454964 2018
9
Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation. 61
26747696 2016
10
Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. 61
21816950 2011
11
Loss of SNAP29 impairs endocytic recycling and cell motility. 61
20305790 2010

Variations for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

ClinVar genetic disease variations for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

6 (show top 50) (show all 90) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNAP29 SNAP29, 1-BP DEL, 220Gdeletion Pathogenic 5741
2 SNAP29 NM_004782.4(SNAP29):c.487dup (p.Ser163fs)duplication Pathogenic 50295 rs387907363 22:21235388-21235389 22:20881100-20881101
3 SNAP29 NM_004782.4(SNAP29):c.223del (p.Val75fs)deletion Pathogenic/Likely pathogenic 224877 rs869312906 22:21213618-21213618 22:20859330-20859330
4 SNAP29 NC_000022.11:g.(?_21213348)_(21242174_?)deldeletion Likely pathogenic 495289 22:21213348-21242174
5 SNAP29 NM_004782.4(SNAP29):c.354dup (p.Leu119fs)duplication Conflicting interpretations of pathogenicity 279932 rs751575036 22:21224735-21224736 22:20870447-20870448
6 SNAP29 NM_004782.4(SNAP29):c.234C>G (p.Ser78=)SNV Conflicting interpretations of pathogenicity 340832 rs144160898 22:21213632-21213632 22:20859344-20859344
7 SNAP29 NM_004782.4(SNAP29):c.502A>G (p.Arg168Gly)SNV Uncertain significance 340834 rs886057264 22:21235404-21235404 22:20881116-20881116
8 SNAP29 NM_004782.4(SNAP29):c.580C>T (p.His194Tyr)SNV Uncertain significance 340836 rs766339332 22:21237818-21237818 22:20883530-20883530
9 SNAP29 NM_004782.4(SNAP29):c.*2937_*2944deldeletion Uncertain significance 340897 rs361606 22:21245047-21245054 22:20890759-20890766
10 SNAP29 NM_004782.4(SNAP29):c.*2944deldeletion Uncertain significance 340896 rs361606 22:21245047-21245047 22:20890759-20890759
11 SNAP29 NM_004782.4(SNAP29):c.-40T>GSNV Uncertain significance 340824 rs886057263 22:21213359-21213359 22:20859071-20859071
12 SNAP29 NM_004782.4(SNAP29):c.*816C>TSNV Uncertain significance 340858 rs886057271 22:21242940-21242940 22:20888652-20888652
13 SNAP29 NM_004782.4(SNAP29):c.*1570T>CSNV Uncertain significance 340867 rs534348201 22:21243694-21243694 22:20889406-20889406
14 SNAP29 NM_004782.4(SNAP29):c.*2143G>ASNV Uncertain significance 340876 rs370242754 22:21244267-21244267 22:20889979-20889979
15 SNAP29 NM_004782.4(SNAP29):c.*2304C>TSNV Uncertain significance 340881 rs886057274 22:21244428-21244428 22:20890140-20890140
16 SNAP29 NM_004782.4(SNAP29):c.*2411T>CSNV Uncertain significance 340882 rs139989203 22:21244535-21244535 22:20890247-20890247
17 SNAP29 NM_004782.4(SNAP29):c.*2777G>ASNV Uncertain significance 340887 rs374333957 22:21244901-21244901 22:20890613-20890613
18 SNAP29 NM_004782.4(SNAP29):c.*2791T>CSNV Uncertain significance 340889 rs187911143 22:21244915-21244915 22:20890627-20890627
19 SNAP29 NM_004782.4(SNAP29):c.*3035C>TSNV Uncertain significance 340900 rs886057278 22:21245159-21245159 22:20890871-20890871
20 SNAP29 NM_004782.4(SNAP29):c.*3107C>TSNV Uncertain significance 340901 rs886057279 22:21245231-21245231 22:20890943-20890943
21 SNAP29 NM_004782.4(SNAP29):c.*3193G>ASNV Uncertain significance 340903 rs553460221 22:21245317-21245317 22:20891029-20891029
22 SNAP29 NM_004782.4(SNAP29):c.550A>G (p.Met184Val)SNV Uncertain significance 340835 rs770234475 22:21237788-21237788 22:20883500-20883500
23 SNAP29 NM_004782.4(SNAP29):c.*477_*478AC[21]short repeat Uncertain significance 340846 rs575240461 22:21242600-21242601 22:20888312-20888313
24 SNAP29 NM_004782.4(SNAP29):c.*614C>GSNV Uncertain significance 340855 rs192171507 22:21242738-21242738 22:20888450-20888450
25 SNAP29 NM_004782.4(SNAP29):c.*780G>TSNV Uncertain significance 340857 rs543150102 22:21242904-21242904 22:20888616-20888616
26 SNAP29 NM_004782.4(SNAP29):c.6A>G (p.Ser2=)SNV Uncertain significance 340829 rs770386845 22:21213404-21213404 22:20859116-20859116
27 SNAP29 NM_004782.4(SNAP29):c.*2111G>TSNV Uncertain significance 340875 rs551094177 22:21244235-21244235 22:20889947-20889947
28 SNAP29 NM_004782.4(SNAP29):c.*2179G>ASNV Uncertain significance 340878 rs553271593 22:21244303-21244303 22:20890015-20890015
29 SNAP29 NM_004782.4(SNAP29):c.*2501G>ASNV Uncertain significance 340883 rs112984030 22:21244625-21244625 22:20890337-20890337
30 SNAP29 NM_004782.4(SNAP29):c.643C>T (p.Arg215Cys)SNV Uncertain significance 340837 rs371123997 22:21241990-21241990 22:20887702-20887702
31 SNAP29 NM_004782.4(SNAP29):c.*472_*483delinsTindel Uncertain significance 340843 rs1555915252 22:21242596-21242607 22:20888308-20888319
32 SNAP29 NM_004782.4(SNAP29):c.*505_*522deldeletion Uncertain significance 340848 rs368659383 22:21242628-21242645 22:20888340-20888357
33 SNAP29 NM_004782.4(SNAP29):c.*515_*522deldeletion Uncertain significance 340849 rs371833796 22:21242638-21242645 22:20888350-20888357
34 SNAP29 NM_004782.4(SNAP29):c.*477_*478AC[20]short repeat Uncertain significance 340847 rs575240461 22:21242600-21242603 22:20888312-20888315
35 SNAP29 NM_004782.4(SNAP29):c.*519A>TSNV Uncertain significance 340853 rs200263284 22:21242643-21242643 22:20888355-20888355
36 SNAP29 NM_004782.4(SNAP29):c.*477_*478AC[23]short repeat Uncertain significance 340844 rs575240461 22:21242599-21242600 22:20888311-20888312
37 SNAP29 NM_004782.4(SNAP29):c.*1543A>CSNV Uncertain significance 340865 rs9613204 22:21243667-21243667 22:20889379-20889379
38 SNAP29 NM_004782.4(SNAP29):c.*1667G>ASNV Uncertain significance 340869 rs370941828 22:21243791-21243791 22:20889503-20889503
39 SNAP29 NM_004782.4(SNAP29):c.*1789C>ASNV Uncertain significance 340870 rs756339493 22:21243913-21243913 22:20889625-20889625
40 SNAP29 NM_004782.4(SNAP29):c.*2052A>TSNV Uncertain significance 340872 rs74557072 22:21244176-21244176 22:20889888-20889888
41 SNAP29 NM_004782.4(SNAP29):c.*240C>TSNV Uncertain significance 340840 rs886057265 22:21242364-21242364 22:20888076-20888076
42 SNAP29 NM_004782.4(SNAP29):c.*513_*522deldeletion Uncertain significance 340850 rs771299879 22:21242636-21242645 22:20888348-20888357
43 SNAP29 NM_004782.4(SNAP29):c.*2261G>ASNV Uncertain significance 340879 rs165744 22:21244385-21244385 22:20890097-20890097
44 SNAP29 NM_004782.4(SNAP29):c.*2564dupduplication Uncertain significance 340885 rs886057275 22:21244685-21244686 22:20890397-20890398
45 SNAP29 NM_004782.4(SNAP29):c.*2783C>TSNV Uncertain significance 340888 rs142566638 22:21244907-21244907 22:20890619-20890619
46 SNAP29 NM_004782.4(SNAP29):c.*3171G>ASNV Uncertain significance 340902 rs886057280 22:21245295-21245295 22:20891007-20891007
47 SNAP29 NM_004782.4(SNAP29):c.*3252T>GSNV Uncertain significance 340904 rs376610436 22:21245376-21245376 22:20891088-20891088
48 SNAP29 NM_004782.4(SNAP29):c.-76G>ASNV Uncertain significance 340821 rs376809644 22:21213323-21213323 22:20859035-20859035
49 SNAP29 NM_004782.4(SNAP29):c.-70_-69deldeletion Uncertain significance 340822 rs886057262 22:21213328-21213329 22:20859040-20859041
50 SNAP29 NM_004782.4(SNAP29):c.240G>A (p.Glu80=)SNV Uncertain significance 340833 rs528593119 22:21224627-21224627 22:20870339-20870339

Expression for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Search GEO for disease gene expression data for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome.

Pathways for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Pathways related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 SNARE interactions in vesicular transport hsa04130

Pathways related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 STX6 SNAP29 SNAP23 RAB3A NSF AP1S1
2
Show member pathways
11.88 STX6 SNAP23 NSF AP1S1
3 11.01 STX6 NSF
4
Show member pathways
10.93 STX6 STX19 SNAP29 SNAP23
5 10.79 STX6 SNAP29 NSF

GO Terms for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Cellular components related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.67 STX6 SNAP29 NSF AP1S1
2 perinuclear region of cytoplasm GO:0048471 9.55 VPS33B STX6 SNAP47 RAB3A EHD1
3 synaptic vesicle GO:0008021 9.5 STX6 STX19 RAB3A
4 endomembrane system GO:0012505 9.43 STX6 STX19 SNAP47
5 terminal bouton GO:0043195 9.4 RAB3A AP1S1
6 SNARE complex GO:0031201 9.02 STX6 STX19 SNAP47 SNAP29 SNAP23
7 ciliary pocket membrane GO:0020018 8.96 SNAP29 EHD1

Biological processes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.8 VPS33B STX6 STX19 NSF AP1S1
2 intracellular protein transport GO:0006886 9.8 STX6 STX19 RAB3A NSF EHD1 AP1S1
3 exocytosis GO:0006887 9.63 STX19 SNAP47 SNAP29 SNAP23 RAB3A NSF
4 membrane fusion GO:0061025 9.61 VPS33B SNAP29 SNAP23
5 protein transport GO:0015031 9.61 VPS33B STX6 SNAP29 SNAP23 RAB3A NSF
6 endosome organization GO:0007032 9.56 VPS33B STX6
7 synaptic vesicle fusion to presynaptic active zone membrane GO:0031629 9.56 STX19 SNAP47 SNAP29 SNAP23
8 endocytic recycling GO:0032456 9.55 STX6 EHD1
9 regulation of exocytosis GO:0017157 9.54 RAB3A NSF
10 synaptic vesicle priming GO:0016082 9.54 SNAP47 SNAP29 SNAP23
11 autophagosome maturation GO:0097352 9.52 VPS33B SNAP29
12 vesicle docking involved in exocytosis GO:0006904 9.51 VPS33B RAB3A
13 lysosome localization GO:0032418 9.49 VPS33B RAB3A
14 vesicle docking GO:0048278 9.48 STX6 STX19
15 vesicle targeting GO:0006903 9.46 SNAP29 SNAP23
16 vesicle fusion GO:0006906 9.02 STX6 STX19 SNAP47 SNAP29 SNAP23

Molecular functions related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 syntaxin binding GO:0019905 9.35 STX6 SNAP47 SNAP29 SNAP23 NSF
2 SNARE binding GO:0000149 9.33 STX6 STX19 NSF
3 SNAP receptor activity GO:0005484 9.02 STX6 STX19 SNAP47 SNAP29 SNAP23

Sources for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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