NEDDFL
MCID: NRD037
MIFTS: 34

Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies (NEDDFL)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

Name: Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies 57 74 6
Neddfl 57 74
Non-Specific Syndromic Intellectual Disability 59
Complex Neurodevelopmental Disorder 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

32
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 617755
MeSH 44 D065886
Orphanet 59 ORPHA528084

Summaries for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

UniProtKB/Swiss-Prot : 74 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies: An autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet.

MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies, also known as neddfl, is related to yuan-harel-lupski syndrome and spastic paraplegia and psychomotor retardation with or without seizures. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies is BPTF (Bromodomain PHD Finger Transcription Factor). The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related phenotypes are abnormality of the cerebral white matter and hypertelorism

OMIM : 57 NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017). (617755)

Related Diseases for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Graphical network of the top 20 diseases related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:



Diseases related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies

Symptoms & Phenotypes for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Human phenotypes related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 abnormality of the cerebral white matter 32 very rare (1%) HP:0002500
2 hypertelorism 32 HP:0000316
3 clinodactyly 32 HP:0030084
4 intellectual disability 32 HP:0001249
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 pes planus 32 HP:0001763
8 microcephaly 32 HP:0000252
9 short stature 32 HP:0004322
10 micrognathia 32 HP:0000347
11 broad nasal tip 32 HP:0000455
12 generalized hypotonia 32 HP:0001290
13 strabismus 32 HP:0000486
14 epicanthus 32 HP:0000286
15 narrow mouth 32 HP:0000160
16 small hand 32 HP:0200055
17 upslanted palpebral fissure 32 HP:0000582
18 sandal gap 32 HP:0001852
19 thin upper lip vermilion 32 HP:0000219
20 slender finger 32 HP:0001238
21 prominent nose 32 HP:0000448
22 short palpebral fissure 32 HP:0012745
23 overlapping toe 32 HP:0001845
24 broad hallux 32 HP:0010055

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
epicanthal folds
short palpebral fissures
upslanting palpebral fissures
more
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
white matter abnormalities (in some patients)
delayed speech
pituitary hypoplasia (in some patients)

Growth Height:
short stature

Head And Neck Nose:
broad nasal tip
prominent nose
long nasal bridge

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
microcephaly, mild (-2 to -3 sd)

Skeletal Hands:
clinodactyly
small hands
slender fingers

Skeletal Feet:
pes planus
sandal gap
overlapping toes
broad halluces

Head And Neck Face:
micrognathia

Head And Neck Mouth:
thin upper lip
small mouth

Growth Other:
poor overall growth

Clinical features from OMIM:

617755

GenomeRNAi Phenotypes related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.02 ACTL6A BPTF
2 Increased Nanog expression GR00371-A-2 9.02 BPTF
3 Increased Nanog expression GR00371-A-3 9.02 ACTL6A
4 Increased Nanog expression GR00371-A-4 9.02 BPTF

Drugs & Therapeutics for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Drugs for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Experimental, Investigational Phase 2, Phase 3 13422-55-4
2
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 15589840
3
Risperidone Approved, Investigational Phase 2, Phase 3 106266-06-2 5073
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
5
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
6
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
7 Micronutrients Phase 2, Phase 3
8 Trace Elements Phase 2, Phase 3
9 Vitamins Phase 2, Phase 3
10 Vitamin B 12 Phase 2, Phase 3
11 Vitamin B Complex Phase 2, Phase 3
12 Vitamin B9 Phase 2, Phase 3
13 Folate Phase 2, Phase 3
14 Nutrients Phase 2, Phase 3
15 Vitamin B12 Phase 2, Phase 3
16 Tranquilizing Agents Phase 2, Phase 3
17 Central Nervous System Depressants Phase 2, Phase 3
18 Serotonin Antagonists Phase 2, Phase 3
19 Serotonin Agents Phase 2, Phase 3
20 Antipsychotic Agents Phase 2, Phase 3
21 Psychotropic Drugs Phase 2, Phase 3
22 Dopamine Antagonists Phase 2, Phase 3
23
Serotonin Investigational, Nutraceutical Phase 2, Phase 3 50-67-9 5202
24
Dopamine Approved Early Phase 1 51-61-6, 62-31-7 681
25
Memantine Approved, Investigational Early Phase 1 19982-08-2 4054
26 Neurotransmitter Agents Early Phase 1
27 Dopamine Agents Early Phase 1
28 Antiparkinson Agents Early Phase 1
29 Excitatory Amino Acid Antagonists Early Phase 1
30 Excitatory Amino Acids Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double Blind Placebo Controlled Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
2 Double-Blind Placebo Controlled, Cross-over Trial of Subcutaneous B12 on Behavioral and Metabolic Measures in Children With Autism. Completed NCT00273650 Phase 2, Phase 3 methylcobalamin
3 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone
4 Predicting Treatment Response to Memantine in Autism Spectrum Disorder Using MR Spectroscopy Recruiting NCT02811627 Early Phase 1 Memantine
5 Effects of Transcranial Direct Current Stimulation (tDCS) on Obsessive Compulsive Behavior and Depressive Symptoms on Individuals With Prader-Willi Syndrome Enrolling by invitation NCT03324906
6 Prevalence of Tics in Childern With Acute Deficit Hyper Activity Syndrom Not yet recruiting NCT03817710

Search NIH Clinical Center for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies

Genetic Tests for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Anatomical Context for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

41
Pituitary

Publications for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Articles related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

# Title Authors PMID Year
1
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 8 71
28942966 2017
2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome. 38
30633344 2019

Variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BPTF NM_004459.7(BPTF): c.989del (p.Leu330fs) deletion Pathogenic rs1135401778 17:65850431-65850431 17:67854315-67854315
2 BPTF NM_004459.7(BPTF): c.2860dup (p.Glu954fs) duplication Pathogenic rs1555639411 17:65890220-65890220 17:67894104-67894104
3 BPTF NM_004459.7(BPTF): c.5214_5215TG[1] (p.Val1739fs) short repeat Pathogenic rs1555652383 17:65908838-65908839 17:67912722-67912723
4 BPTF NM_004459.7(BPTF): c.8650A> T (p.Lys2884Ter) single nucleotide variant Pathogenic rs1555693714 17:65972049-65972049 17:67975933-67975933
5 BPTF NM_004459.7(BPTF): c.8558T> G (p.Met2853Arg) single nucleotide variant Pathogenic/Likely pathogenic rs782736894 17:65971957-65971957 17:67975841-67975841

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies:

74
# Symbol AA change Variation ID SNP ID
1 BPTF p.Ala1924Thr VAR_080531
2 BPTF p.Met2996Arg VAR_080532

Expression for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies.

Pathways for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

GO Terms for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

Cellular components related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.96 BPTF ACTL6A
2 nucleoplasm GO:0005654 8.92 RLIM PSMD12 BPTF ACTL6A

Biological processes related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.16 BPTF ACTL6A
2 protein deubiquitination GO:0016579 8.96 PSMD12 ACTL6A
3 chromatin remodeling GO:0006338 8.62 BPTF ACTL6A

Sources for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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