NEDFASB
MCID: NRD114
MIFTS: 14

Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities (NEDFASB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities:

Name: Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities 57 6
Neurodevelopmental Disorder Wtih Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities 57
Nedfasb 57

Classifications:



External Ids:

OMIM® 57 619103

Summaries for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

OMIM® : 57 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB) is a syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Craniofacial dysmorphisms, while variable, include round face, prognathism, depressed nasal bridge, and cleft or high-arched palate. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy. Additional features may include genitourinary tract anomalies, hearing loss, and mild distal skeletal defects (summary by Humbert et al., 2020). (619103) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities, also known as neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, is related to aicardi-goutieres syndrome 3 and aicardi-goutieres syndrome. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities is KAT5 (Lysine Acetyltransferase 5). Affiliated tissues include brain, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Related Diseases for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

Diseases related to Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 3 9.6 RNASEH2C KAT5
2 aicardi-goutieres syndrome 9.5 RNASEH2C KAT5

Symptoms & Phenotypes for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

Clinical features from OMIM®:

619103 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities according to GeneCards Suite gene sharing:

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# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.26 KAT5 RNASEH2C
2 Decreased homologous recombination repair frequency GR00236-A-2 9.26 KAT5 RNASEH2C
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.8 RNASEH2C
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 KAT5 RNASEH2C

Drugs & Therapeutics for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

Anatomical Context for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities:

40
Brain

Publications for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

Articles related to Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities:

# Title Authors PMID Year
1
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. 6 57
32822602 2020

Variations for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KAT5 NM_182710.3(KAT5):c.257G>A (p.Arg86His) SNV Pathogenic 987964 11:65480402-65480402 11:65712931-65712931
2 KAT5 NM_182710.3(KAT5):c.1204T>A (p.Cys402Ser) SNV Pathogenic 987965 11:65484393-65484393 11:65716922-65716922
3 KAT5 NM_182710.3(KAT5):c.1336T>G (p.Ser446Ala) SNV Pathogenic 987966 11:65486132-65486132 11:65718661-65718661

Expression for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep Disturbance, and Brain Abnormalities.

Pathways for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

GO Terms for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

Sources for Neurodevelopmental Disorder with Dysmorphic Facies, Sleep...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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