CEDNIK
MCID: CRB069
MIFTS: 45

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 57 53 74 29 13 6 44 40 72
Cednik Syndrome 57 12 53 59 74 37 15
Neurocutaneous Syndromes 44 72
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome 59
Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome 12
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome 75
Cednik 74

Characteristics:

Orphanet epidemiological data:

59
cednik syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

32
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060337
OMIM 57 609528
KEGG 37 H00799
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C1836033
Orphanet 59 ORPHA66631
MedGen 42 C1836033
UMLS 72 C0265316 C1836033

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 66631DefinitionCEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.EpidemiologyIt has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families.Clinical descriptionClinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.EtiologyIt is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion.Genetic counselingThe 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 neurocutaneous syndrome with epilepsy and cutis laxa, autosomal recessive, type iiia. 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 is SNARE interactions in vesicular transport. Affiliated tissues include brain, skin and eye, 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 : 57 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 : 37
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 : 74 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.

Wikipedia : 75 Cerebral dysgenesis-neuropathy-ichthyosis-keratoderma syndrome is a cutaneous 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 167)
# Related Disease Score Top Affiliating Genes
1 neurocutaneous syndrome with epilepsy 12.2
2 cutis laxa, autosomal recessive, type iiia 11.7
3 sturge-weber syndrome 11.5
4 hypomelanosis of ito 11.5
5 west syndrome 11.5
6 gomez-lopez-hernandez syndrome 11.5
7 phace association 11.5
8 trichothiodystrophy 4, nonphotosensitive 11.4
9 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 11.3
10 melkersson-rosenthal syndrome 11.2
11 lymphangioleiomyomatosis 11.2
12 tuberous sclerosis 10.5
13 neurofibromatosis, type iv, of riccardi 10.5
14 ichthyosis 10.4
15 lipomatosis 10.3
16 weber syndrome 10.3
17 encephalocraniocutaneous lipomatosis 10.3
18 microcephaly 10.2
19 tuberous sclerosis 1 10.2
20 incontinentia pigmenti 10.2
21 ataxia and polyneuropathy, adult-onset 10.2
22 alopecia 10.2
23 ataxia-telangiectasia 10.1
24 telangiectasis 10.1
25 digeorge syndrome 10.1
26 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
27 apraxia 10.1
28 palmoplantar keratosis 10.1
29 polymicrogyria 10.1
30 keratosis 10.1
31 neuropathy 10.1
32 erythrokeratoderma ''en cocardes'' 10.1
33 rare genetic skin disease 10.1
34 von hippel-lindau syndrome 10.1
35 hemangioma 10.1
36 hypotonia 10.1
37 nevus, epidermal 10.0
38 arteriovenous malformation 10.0
39 phace syndrome 10.0
40 seizure disorder 10.0
41 basal cell nevus syndrome 9.9
42 coloboma of macula 9.9
43 keratitis, hereditary 9.9
44 klippel-trenaunay-weber syndrome 9.9
45 lipomatosis, multiple 9.9
46 sjogren-larsson syndrome 9.9
47 spastic paraplegia 23, autosomal recessive 9.9
48 alopecia, congenital 9.9
49 branchiootic syndrome 1 9.9
50 pleomorphic lipoma 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:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
7 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
8 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
9 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
10 poor head control 59 32 hallmark (90%) Very frequent (99-80%) HP:0002421
11 diffuse palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007435
12 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
13 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
14 abnormality of peripheral nerve conduction 59 32 frequent (33%) Frequent (79-30%) HP:0003134
15 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
16 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
17 polymicrogyria 59 32 frequent (33%) Frequent (79-30%) HP:0002126
18 pachygyria 59 32 frequent (33%) Frequent (79-30%) HP:0001302
19 abnormal corpus callosum morphology 59 32 frequent (33%) Frequent (79-30%) HP:0001273
20 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
21 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
22 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
23 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
24 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
25 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
26 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
27 dolichocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000268
28 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
29 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
30 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
31 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
32 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
33 muscular hypotonia 32 HP:0001252
34 failure to thrive 32 HP:0001508
35 depressed nasal bridge 32 HP:0005280
36 wide nasal bridge 32 HP:0000431
37 abnormality of the eye 59 Occasional (29-5%)
38 intellectual disability, severe 32 HP:0010864
39 palmoplantar keratoderma 32 HP:0000982
40 intellectual disability, progressive 32 HP:0006887
41 polyneuropathy 32 HP:0001271
42 cortical dysplasia 32 HP:0002539
43 optic disc hypoplasia 32 HP:0007766
44 progressive microcephaly 32 HP:0000253

Symptoms via clinical synopsis from OMIM:

57
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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.1 PI4KA
2 Decreased viability GR00231-A 9.1 PI4KA SQSTM1
3 Decreased viability GR00381-A-1 9.1 SQSTM1
4 Decreased viability GR00402-S-2 9.1 PI4KA SQSTM1

MGI Mouse Phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 ABCA12 CACNA1E CHD7 PI4KA SNAP29 SQSTM1
2 cellular MP:0005384 9.43 ABCA12 CHD7 EHD1 PI4KA SNAP29 SQSTM1
3 growth/size/body region MP:0005378 9.17 ABCA12 CACNA1E CHD7 EHD1 PI4KA SNAP29

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

Search Clinical Trials , 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:

41
Brain, Skin, Eye, Heart

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

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

# Title Authors PMID Year
1
CEDNIK syndrome results from loss-of-function mutations in SNAP29. 38 8 71
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. 38 8 71
15968592 2005
3
CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. 38
30793783 2019
4
A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development. 38
30718891 2019
5
NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes. 38
29454964 2018
6
Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation. 38
26747696 2016
7
Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. 38
21816950 2011
8
Loss of SNAP29 impairs endocytic recycling and cell motility. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SNAP29 SNAP29, 1-BP DEL, 220G deletion Pathogenic
2 SNAP29 NM_004782.4(SNAP29): c.487dup (p.Ser163fs) duplication Pathogenic rs387907363 22:21235389-21235389 22:20881101-20881101
3 SNAP29 NM_004782.4(SNAP29): c.223del (p.Val75fs) deletion Pathogenic rs869312906 22:21213621-21213621 22:20859333-20859333
4 SNAP29 NC_000022.11: g.(?_21213348)_(21242174_?)del deletion Likely pathogenic
5 SNAP29 NM_004782.4(SNAP29): c.354dup (p.Leu119fs) duplication Conflicting interpretations of pathogenicity rs751575036 22:21224741-21224741 22:20870453-20870453
6 SNAP29 NM_004782.4(SNAP29): c.234C> G (p.Ser78=) single nucleotide variant Conflicting interpretations of pathogenicity rs144160898 22:21213632-21213632 22:20859344-20859344
7 SNAP29 NM_004782.4(SNAP29): c.502A> G (p.Arg168Gly) single nucleotide variant Uncertain significance rs886057264 22:21235404-21235404 22:20881116-20881116
8 SNAP29 NM_004782.4(SNAP29): c.580C> T (p.His194Tyr) single nucleotide variant Uncertain significance rs766339332 22:21237818-21237818 22:20883530-20883530
9 SNAP29 NM_004782.4(SNAP29): c.-40T> G single nucleotide variant Uncertain significance rs886057263 22:21213359-21213359 22:20859071-20859071
10 SNAP29 NM_004782.4(SNAP29): c.*240C> T single nucleotide variant Uncertain significance rs886057265 22:21242364-21242364 22:20888076-20888076
11 SNAP29 NM_004782.4(SNAP29): c.*816C> T single nucleotide variant Uncertain significance rs886057271 22:21242940-21242940 22:20888652-20888652
12 SNAP29 NM_004782.4(SNAP29): c.*1570T> C single nucleotide variant Uncertain significance rs534348201 22:21243694-21243694 22:20889406-20889406
13 SNAP29 NM_004782.4(SNAP29): c.*2143G> A single nucleotide variant Uncertain significance rs370242754 22:21244267-21244267 22:20889979-20889979
14 SNAP29 NM_004782.4(SNAP29): c.*2304C> T single nucleotide variant Uncertain significance rs886057274 22:21244428-21244428 22:20890140-20890140
15 SNAP29 NM_004782.4(SNAP29): c.*2411T> C single nucleotide variant Uncertain significance rs139989203 22:21244535-21244535 22:20890247-20890247
16 SNAP29 NM_004782.4(SNAP29): c.*2777G> A single nucleotide variant Uncertain significance rs374333957 22:21244901-21244901 22:20890613-20890613
17 SNAP29 NM_004782.4(SNAP29): c.*2791T> C single nucleotide variant Uncertain significance rs187911143 22:21244915-21244915 22:20890627-20890627
18 SNAP29 NM_004782.4(SNAP29): c.*3035C> T single nucleotide variant Uncertain significance rs886057278 22:21245159-21245159 22:20890871-20890871
19 SNAP29 NM_004782.4(SNAP29): c.*3107C> T single nucleotide variant Uncertain significance rs886057279 22:21245231-21245231 22:20890943-20890943
20 SNAP29 NM_004782.4(SNAP29): c.*3193G> A single nucleotide variant Uncertain significance rs553460221 22:21245317-21245317 22:20891029-20891029
21 SNAP29 NM_004782.4(SNAP29): c.643C> T (p.Arg215Cys) single nucleotide variant Uncertain significance rs371123997 22:21241990-21241990 22:20887702-20887702
22 SNAP29 NM_004782.4(SNAP29): c.*472_*483delinsT indel Uncertain significance rs1555915252 22:21242596-21242607 22:20888308-20888319
23 SNAP29 NM_004782.4(SNAP29): c.*505_*522del deletion Uncertain significance rs368659383 22:21242629-21242646 22:20888341-20888358
24 SNAP29 NM_004782.4(SNAP29): c.*515_*522del deletion Uncertain significance rs371833796 22:21242639-21242646 22:20888351-20888358
25 SNAP29 NM_004782.4(SNAP29): c.*477_*478AC[20] short repeat Uncertain significance rs575240461 22:21242641-21242644 22:20888353-20888356
26 SNAP29 NM_004782.4(SNAP29): c.*519A> T single nucleotide variant Uncertain significance rs200263284 22:21242643-21242643 22:20888355-20888355
27 SNAP29 NM_004782.4(SNAP29): c.*477_*478AC[23] short repeat Uncertain significance rs575240461 22:21242643-21242644 22:20888355-20888356
28 SNAP29 NM_004782.4(SNAP29): c.*1543A> C single nucleotide variant Uncertain significance rs9613204 22:21243667-21243667 22:20889379-20889379
29 SNAP29 NM_004782.4(SNAP29): c.*1667G> A single nucleotide variant Uncertain significance rs370941828 22:21243791-21243791 22:20889503-20889503
30 SNAP29 NM_004782.4(SNAP29): c.*1789C> A single nucleotide variant Uncertain significance rs756339493 22:21243913-21243913 22:20889625-20889625
31 SNAP29 NM_004782.4(SNAP29): c.*2052A> T single nucleotide variant Uncertain significance rs74557072 22:21244176-21244176 22:20889888-20889888
32 SNAP29 NM_004782.4(SNAP29): c.*2261G> A single nucleotide variant Uncertain significance rs165744 22:21244385-21244385 22:20890097-20890097
33 SNAP29 NM_004782.4(SNAP29): c.*2564dup duplication Uncertain significance rs886057275 22:21244688-21244688 22:20890400-20890400
34 SNAP29 NM_004782.4(SNAP29): c.*2783C> T single nucleotide variant Uncertain significance rs142566638 22:21244907-21244907 22:20890619-20890619
35 SNAP29 NM_004782.4(SNAP29): c.*513_*522del deletion Uncertain significance rs771299879 22:21242637-21242646 22:20888349-20888358
36 SNAP29 NM_004782.4(SNAP29): c.*2912G> A single nucleotide variant Uncertain significance rs886057276 22:21245036-21245036 22:20890748-20890748
37 SNAP29 NM_004782.4(SNAP29): c.550A> G (p.Met184Val) single nucleotide variant Uncertain significance rs770234475 22:21237788-21237788 22:20883500-20883500
38 SNAP29 NM_004782.4(SNAP29): c.*477_*478AC[21] short repeat Uncertain significance rs575240461 22:21242643-21242644 22:20888355-20888356
39 SNAP29 NM_004782.4(SNAP29): c.*614C> G single nucleotide variant Uncertain significance rs192171507 22:21242738-21242738 22:20888450-20888450
40 SNAP29 NM_004782.4(SNAP29): c.*780G> T single nucleotide variant Uncertain significance rs543150102 22:21242904-21242904 22:20888616-20888616
41 SNAP29 NM_004782.4(SNAP29): c.*2111G> T single nucleotide variant Uncertain significance rs551094177 22:21244235-21244235 22:20889947-20889947
42 SNAP29 NM_004782.4(SNAP29): c.*2179G> A single nucleotide variant Uncertain significance rs553271593 22:21244303-21244303 22:20890015-20890015
43 SNAP29 NM_004782.4(SNAP29): c.*2501G> A single nucleotide variant Uncertain significance rs112984030 22:21244625-21244625 22:20890337-20890337
44 SNAP29 NM_004782.4(SNAP29): c.*3171G> A single nucleotide variant Uncertain significance rs886057280 22:21245295-21245295 22:20891007-20891007
45 SNAP29 NM_004782.4(SNAP29): c.*3252T> G single nucleotide variant Uncertain significance rs376610436 22:21245376-21245376 22:20891088-20891088
46 SNAP29 NM_004782.4(SNAP29): c.-76G> A single nucleotide variant Uncertain significance rs376809644 22:21213323-21213323 22:20859035-20859035
47 SNAP29 NM_004782.4(SNAP29): c.-70_-69del deletion Uncertain significance rs886057262 22:21213329-21213330 22:20859041-20859042
48 SNAP29 NM_004782.4(SNAP29): c.240G> A (p.Glu80=) single nucleotide variant Uncertain significance rs528593119 22:21224627-21224627 22:20870339-20870339
49 SNAP29 NM_004782.4(SNAP29): c.*255G> A single nucleotide variant Uncertain significance rs187586025 22:21242379-21242379 22:20888091-20888091
50 SNAP29 NM_004782.4(SNAP29): c.*477_*478AC[24] short repeat Uncertain significance rs575240461 22:21242641-21242644 22:20888353-20888356

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:

37
# Name Kegg Source Accession
1 SNARE interactions in vesicular transport hsa04130

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 autophagosome GO:0005776 9.16 SQSTM1 SNAP29
2 ciliary membrane GO:0060170 8.96 SNAP29 EHD1
3 ciliary pocket membrane GO:0020018 8.62 SNAP29 EHD1

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

# Name GO ID Score Top Affiliating Genes
1 endosomal transport GO:0016197 8.62 SQSTM1 EHD1

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 ATP binding GO:0005524 8.92 PI4KA EHD1 CHD7 ABCA12

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

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