PHRINL
MCID: PNT054
MIFTS: 16

Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal (PHRINL)

Categories: Genetic diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal:

Name: Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal 56 6
Phrinl Syndrome 56
Phrinl 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
death in the neonatal period
most patients have biallelic chromosomal deletions affecting the atad3 gene cluster
one family with atad3a point mutations has been reported (last curated march 2020)


Classifications:



External Ids:

OMIM 56 618810

Summaries for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

OMIM : 56 Neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (PHRINL) is an autosomal recessive multisystem disorder with onset in utero and death in the neonatal period. Rare patients may survive a few months. Affected infants show respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit. Additional features include corneal clouding, seizures, dysmorphic facies, contractures, and progressive pontocerebellar hypoplasia with simplified gyral pattern and white matter abnormalities. Some patients may have cardiac anomalies or cardiac hypertrophy. Laboratory studies show evidence consistent with mitochondrial defects and/or abnormal cholesterol or lipid metabolism. Depending on the type of mutation or deletion, some patients may have a less severe disorder (see GENOTYPE/PHENOTYPE CORRELATIONS) (summary by Desai et al., 2017). (618810)

MalaCards based summary : Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal, is also known as phrinl syndrome. An important gene associated with Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal is ATAD3A (ATPase Family AAA Domain Containing 3A). Affiliated tissues include heart and skeletal muscle.

Related Diseases for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Delivery:
breech presentation

Head And Neck Eyes:
cataracts
small palpebral fissures
cloudy cornea

Head And Neck Face:
bitemporal narrowing

Skeletal Feet:
rocker-bottom feet

Head And Neck Head:
small head circumference

Laboratory Abnormalities:
increased plasma lactate
decreased levels of mitochondrial respiratory complex enzymes i, ii, and iv in skeletal muscle, fibroblasts, and hepatic tissue, variable

Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Male:
micropenis

Cardiovascular Heart:
patent ductus arteriosus
patent foramen ovale
bradycardia
congenital heart defects (in some patients)
hypertrophy

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
finger contractures
clenched hands

Neurologic Central Nervous System:
seizures (in some patients)
white matter abnormalities
burst-suppression pattern seen on eeg
pontocerebellar hypoplasia
no spontaneous movements
more
Skeletal:
contractures

Prenatal Manifestations Movement:
decreased fetal movements

Respiratory:
respiratory failure, neonatal (necessitating mechanical ventilation)

Clinical features from OMIM:

618810

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal

Genetic Tests for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

Anatomical Context for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal:

40
Heart, Skeletal Muscle

Publications for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

Articles related to Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal:

(showing 5, show less)
# Title Authors PMID Year
1
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. 56 6
31727539 2019
2
Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance. 56
29053797 2017
3
Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance. 6
29053800 2017
4
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. 56
28549128 2017
5
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 56
27640307 2016

Variations for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal:

6 (showing 3, show less) ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATAD3A NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg)SNV Pathogenic 637018 1:1460622-1460622 1:1525242-1525242
2 ATAD3A NM_001170535.3(ATAD3A):c.490C>T (p.Gln164Ter)SNV Pathogenic 828050 1:1454346-1454346 1:1518966-1518966
3 ATAD3A NM_001170535.3(ATAD3A):c.230T>G (p.Leu77Arg)SNV Pathogenic 828051 1:1451416-1451416 1:1516036-1516036

Expression for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory Insufficiency Syndrome, Neonatal Lethal.

Pathways for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

GO Terms for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

Sources for Pontocerebellar Hypoplasia, Hypotonia, and Respiratory...

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61 PubMed
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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