NEDDFL
MCID: NRD037
MIFTS: 19

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

Categories: Genetic diseases, Neuronal 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 58 76 6
Neddfl 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation


HPO:

33
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies:
Onset and clinical course phenotypic variability


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 silver-russell syndrome. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies is BPTF (Bromodomain PHD Finger Transcription Factor). Affiliated tissues include pituitary, and related phenotypes are abnormality of the cerebral white matter and hypertelorism

OMIM : 58 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...

Diseases related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 10.4

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

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

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 abnormality of the cerebral white matter 33 very rare (1%) HP:0002500
2 hypertelorism 33 HP:0000316
3 clinodactyly 33 HP:0030084
4 intellectual disability 33 HP:0001249
5 global developmental delay 33 HP:0001263
6 delayed speech and language development 33 HP:0000750
7 pes planus 33 HP:0001763
8 strabismus 33 HP:0000486
9 epicanthus 33 HP:0000286
10 small hand 33 HP:0200055
11 narrow mouth 33 HP:0000160
12 upslanted palpebral fissure 33 HP:0000582
13 sandal gap 33 HP:0001852
14 broad nasal tip 33 HP:0000455
15 thin upper lip vermilion 33 HP:0000219
16 slender finger 33 HP:0001238
17 prominent nose 33 HP:0000448
18 short palpebral fissure 33 HP:0012745
19 broad hallux 33 HP:0010055
20 overlapping toe 33 HP:0001845

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Mouth:
small mouth
thin upper lip

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

Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth

Clinical features from OMIM:

617755

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

Search Clinical Trials , 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:

42
Pituitary

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

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

# Title Authors Year
1
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. ( 30633344 )
2019

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

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

76
# Symbol AA change Variation ID SNP ID
1 BPTF p.Ala1924Thr VAR_080531
2 BPTF p.Met2996Arg VAR_080532

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BPTF NM_004459.6(BPTF): c.989delT (p.Leu330Argfs) deletion Pathogenic rs1135401778 GRCh38 Chromosome 17, 67854315: 67854315
2 BPTF NM_004459.6(BPTF): c.989delT (p.Leu330Argfs) deletion Pathogenic rs1135401778 GRCh37 Chromosome 17, 65850431: 65850431
3 BPTF NM_004459.6(BPTF): c.2860dup (p.Glu954Glyfs) duplication Pathogenic rs1555639411 GRCh38 Chromosome 17, 67894104: 67894104
4 BPTF NM_004459.6(BPTF): c.2860dup (p.Glu954Glyfs) duplication Pathogenic rs1555639411 GRCh37 Chromosome 17, 65890220: 65890220
5 BPTF NM_004459.6(BPTF): c.5216_5217del (p.Val1739Glyfs) deletion Pathogenic rs1555652383 GRCh38 Chromosome 17, 67912722: 67912723
6 BPTF NM_004459.6(BPTF): c.5216_5217del (p.Val1739Glyfs) deletion Pathogenic rs1555652383 GRCh37 Chromosome 17, 65908838: 65908839
7 BPTF NM_004459.6(BPTF): c.8558T> G (p.Met2853Arg) single nucleotide variant Pathogenic/Likely pathogenic rs782736894 GRCh38 Chromosome 17, 67975841: 67975841
8 BPTF NM_004459.6(BPTF): c.8558T> G (p.Met2853Arg) single nucleotide variant Pathogenic/Likely pathogenic rs782736894 GRCh37 Chromosome 17, 65971957: 65971957
9 BPTF NM_004459.6(BPTF): c.8650A> T (p.Lys2884Ter) single nucleotide variant Pathogenic rs1555693714 GRCh38 Chromosome 17, 67975933: 67975933
10 BPTF NM_004459.6(BPTF): c.8650A> T (p.Lys2884Ter) single nucleotide variant Pathogenic rs1555693714 GRCh37 Chromosome 17, 65972049: 65972049

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...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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