NEDBLLA
MCID: NRD050
MIFTS: 21

Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities (NEDBLLA)

Categories: Genetic diseases, Liver diseases, Neuronal diseases, Respiratory diseases

Aliases & Classifications for Neurodevelopmental Disorder with Brain, Liver, and Lung...

MalaCards integrated aliases for Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities:

Name: Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 57 75 6
Nedblla 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
early death
one patient had been reported (last curated june 2018)


HPO:

32
neurodevelopmental disorder with brain, liver, and lung abnormalities:
Onset and clinical course congenital onset


Classifications:



Summaries for Neurodevelopmental Disorder with Brain, Liver, and Lung...

UniProtKB/Swiss-Prot : 75 Neurodevelopmental disorder with brain, liver, and lung abnormalities: An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination.

MalaCards based summary : Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, is also known as nedblla. An important gene associated with Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities is FARSB (Phenylalanyl-TRNA Synthetase Subunit Beta). Affiliated tissues include liver, lung and brain, and related phenotypes are osteopenia and seizures

Description from OMIM: 618007

Related Diseases for Neurodevelopmental Disorder with Brain, Liver, and Lung...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Brain, Liver, and Lung...

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
rickets
joint laxity

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Muscle Soft Tissue:
inguinal hernia
ascites
hypotonia

Cardiovascular Vascular:
portal hypertension
pulmonary hypertension

Abdomen External Features:
ascites

Laboratory Abnormalities:
hypocalcemia
vitamin d deficiency
hypoalbuminemia
vitamin a deficiency
abnormal liver enzymes

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Head And Neck Eyes:
deep-set eyes
dysconjugate gaze
poor tracking

Head And Neck Face:
prominent cheeks

Respiratory Lung:
interstitial lung disease

Neurologic Central Nervous System:
seizures
cerebral atrophy
delayed development
abnormal periventricular white matter
basal ganglia echogenicity

Respiratory:
respiratory insufficiency
tachypnea
chronic cough

Abdomen Gastrointestinal:
gastroesophageal reflux
vomiting
poor feeding

Abdomen Liver:
portal hypertension
hepatic steatosis
cirrhosis
cholestasis
bile duct proliferation
more
Hematology:
anemia
pancytopenia
coagulation defects

Immunology:
recurrent infections

Head And Neck Mouth:
high-arched palate

Genitourinary External Genitalia Male:
small phallus
small scrotum

Head And Neck Head:
head lag

Genitourinary Kidneys:
renal echogenicity


Clinical features from OMIM:

618007

Human phenotypes related to Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities:

32 (show all 32)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 seizures 32 HP:0001250
3 failure to thrive 32 HP:0001508
4 respiratory insufficiency 32 HP:0002093
5 inguinal hernia 32 HP:0000023
6 global developmental delay 32 HP:0001263
7 gastroesophageal reflux 32 HP:0002020
8 portal hypertension 32 HP:0001409
9 vomiting 32 HP:0002013
10 rickets 32 HP:0002748
11 decreased liver function 32 HP:0001410
12 ascites 32 HP:0001541
13 anemia 32 HP:0001903
14 pancytopenia 32 HP:0001876
15 feeding difficulties 32 HP:0011968
16 intrauterine growth retardation 32 HP:0001511
17 hepatic steatosis 32 HP:0001397
18 cirrhosis 32 HP:0001394
19 joint laxity 32 HP:0001388
20 deeply set eye 32 HP:0000490
21 hypocalcemia 32 HP:0002901
22 cholestasis 32 HP:0001396
23 vitamin d deficiency 32 HP:0100512
24 cough 32 HP:0012735
25 generalized hypotonia 32 HP:0001290
26 cerebral atrophy 32 HP:0002059
27 tachypnea 32 HP:0002789
28 hypoalbuminemia 32 HP:0003073
29 vitamin a deficiency 32 HP:0004905
30 bile duct proliferation 32 HP:0001408
31 small scrotum 32 HP:0030276
32 elevated hepatic transaminase 32 HP:0002910

Drugs & Therapeutics for Neurodevelopmental Disorder with Brain, Liver, and Lung...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Brain, Liver, and Lung...

Anatomical Context for Neurodevelopmental Disorder with Brain, Liver, and Lung...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities:

41
Liver, Lung, Brain, Eye

Publications for Neurodevelopmental Disorder with Brain, Liver, and Lung...

Variations for Neurodevelopmental Disorder with Brain, Liver, and Lung...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FARSB NM_005687.4(FARSB): c.767C> T (p.Thr256Met) single nucleotide variant Pathogenic/Likely pathogenic rs753710639 GRCh37 Chromosome 2, 223496342: 223496342
2 FARSB NM_005687.4(FARSB): c.767C> T (p.Thr256Met) single nucleotide variant Pathogenic/Likely pathogenic rs753710639 GRCh38 Chromosome 2, 222631623: 222631623
3 FARSB NM_005687.4(FARSB): c.1486delCinsAA (p.His496Lysfs) indel Pathogenic/Likely pathogenic GRCh38 Chromosome 2, 222600060: 222600060
4 FARSB NM_005687.4(FARSB): c.1486delCinsAA (p.His496Lysfs) indel Pathogenic/Likely pathogenic GRCh37 Chromosome 2, 223464779: 223464779
5 FARSB NM_005687.4(FARSB): c.853G> A (p.Glu285Lys) single nucleotide variant Likely pathogenic rs767956337 GRCh37 Chromosome 2, 223493603: 223493603
6 FARSB NM_005687.4(FARSB): c.853G> A (p.Glu285Lys) single nucleotide variant Likely pathogenic rs767956337 GRCh38 Chromosome 2, 222628884: 222628884

Expression for Neurodevelopmental Disorder with Brain, Liver, and Lung...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities.

Pathways for Neurodevelopmental Disorder with Brain, Liver, and Lung...

GO Terms for Neurodevelopmental Disorder with Brain, Liver, and Lung...

Sources for Neurodevelopmental Disorder with Brain, Liver, and Lung...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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