NEDHRIT
MCID: NRD094
MIFTS: 19

Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation (NEDHRIT)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation:

Name: Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation 56 73 6
Nedhrit 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
four unrelated patients have been reported (last curated march 2020)


Classifications:



External Ids:

OMIM 56 618797
MeSH 43 D065886
MedGen 41 CN263344

Summaries for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation: An autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale.

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation, is also known as nedhrit. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation is RALGAPA1 (Ral GTPase Activating Protein Catalytic Subunit Alpha 1). Affiliated tissues include brain, eye and pituitary.

OMIM : 56 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) is a severe autosomal recessive disorder characterized by neonatal respiratory distress, poor feeding, and impaired global development. Affected individuals are unable to walk or speak and have poor or absent eye contact. Some patients may develop seizures (summary by Wagner et al., 2020). (618797)

Related Diseases for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
short nose
anteverted nares
flattened nasal bridge

Neurologic Central Nervous System:
absent speech
gray matter heterotopia
brain atrophy
dysplastic corpus callosum
hypotonia
more
Head And Neck Face:
large forehead

Head And Neck Mouth:
large mouth
gingival hyperplasia
prominent lower lip

Respiratory:
respiratory insufficiency, neonatal

Skeletal Feet:
skin syndactyly

Growth Other:
failure to thrive
poor overall growth

Head And Neck Eyes:
glaucoma
poor eye contact
epicanthal folds
cataracts
upslanting palpebral fissures
more
Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding
tube feeding

Skeletal Hands:
skin syndactyly

Metabolic Features:
temperature dysregulation, central

Clinical features from OMIM:

618797

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation

Genetic Tests for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation:

40
Brain, Eye, Pituitary, Skin

Publications for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

Articles related to Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation:

# Title Authors PMID Year
1
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. 56 6
32004447 2020
2
TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. 56
19733229 2009

Variations for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RALGAPA1 NM_014990.3(RALGAPA1):c.1126C>T (p.Arg376Ter)SNV Pathogenic 691794 14:36217916-36217916 14:35748710-35748710
2 RALGAPA1 NM_014990.3(RALGAPA1):c.4992del (p.Phe1664fs)deletion Pathogenic 691795 14:36096643-36096643 14:35627437-35627437
3 RALGAPA1 NM_014990.3(RALGAPA1):c.610G>T (p.Glu204Ter)SNV Pathogenic 691796 14:36226052-36226052 14:35756846-35756846
4 RALGAPA1 NM_014990.3(RALGAPA1):c.5732C>G (p.Ser1911Ter)SNV Pathogenic 691797 14:36041884-36041884 14:35572678-35572678
5 RALGAPA1 NM_014990.3(RALGAPA1):c.3227A>G (p.Asn1076Ser)SNV Pathogenic 691798 14:36143795-36143795 14:35674589-35674589

Expression for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory Insufficiency, and Thermodysregulation.

Pathways for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

GO Terms for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

Sources for Neurodevelopmental Disorder with Hypotonia, Neonatal Respiratory...

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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