MCID: NRD050
MIFTS: 14

Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities

Categories: Genetic diseases, Neuronal diseases, Respiratory diseases, Liver 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 6
Nedblla 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618007

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

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.

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

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 rs753710639 GRCh37 Chromosome 2, 223496342: 223496342
2 FARSB NM_005687.4(FARSB): c.767C> T (p.Thr256Met) single nucleotide variant Pathogenic rs753710639 GRCh38 Chromosome 2, 222631623: 222631623
3 FARSB NM_005687.4(FARSB): c.1486delCinsAA (p.His496Lysfs) indel Pathogenic GRCh38 Chromosome 2, 222600060: 222600060
4 FARSB NM_005687.4(FARSB): c.1486delCinsAA (p.His496Lysfs) indel Pathogenic GRCh37 Chromosome 2, 223464779: 223464779

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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