MCID: HYP722
MIFTS: 15

Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Categories: Genetic diseases

Aliases & Classifications for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

MalaCards integrated aliases for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

Name: Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 54 71 29
Hpanbh4 24 71
Hyperphenylalaninemia, Mild and Non-Bh4-Deficient 24

Characteristics:

OMIM:

54
Miscellaneous:
no defect in bh4 metabolism
favorable response to treatment with neurotransmitter precursors and bh4 supplementation
variable neurologic features

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 54 617384
MedGen 40 CN240901
MeSH 42 D000592

Summaries for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

OMIM : 54
Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017). (617384)

MalaCards based summary : Hyperphenylalaninemia, Mild, Non-Bh4-Deficient, is also known as hpanbh4. An important gene associated with Hyperphenylalaninemia, Mild, Non-Bh4-Deficient is DNAJC12 (DnaJ Heat Shock Protein Family (Hsp40) Member C12).

UniProtKB/Swiss-Prot : 71 Hyperphenylalaninemia, mild, non-BH4-deficient: An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability.

Related Diseases for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Symptoms & Phenotypes for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
increased serum phenylalanine
decreased dopamine and serotonin metabolites in the cerebrospinal fluid

Neurologic- Central Nervous System:
speech delay
broad-based gait
gross motor function deficits
dystonia
parkinsonism
more
Head And Neck- Eyes:
oculogyric crises
nystagmus

Neurologic- Behavioral Psychiatric Manifestations:
autistic features

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617384

Drugs & Therapeutics for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Search Clinical Trials , NIH Clinical Center for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Genetic Tests for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Genetic tests related to Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

id Genetic test Affiliating Genes
1 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 29
2 Hyperphenylalaninemia, Mild and Non-Bh4-Deficient 24 DNAJC12

Anatomical Context for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Publications for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Variations for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

71
id Symbol AA change Variation ID SNP ID
1 DNAJC12 p.Arg72Pro VAR_078797

ClinVar genetic disease variations for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC12 NM_021800.2(DNAJC12): c.298-968_503-2603del deletion Pathogenic
2 DNAJC12 NM_021800.2(DNAJC12): c.215G> C (p.Arg72Pro) single nucleotide variant Pathogenic rs1035794099 GRCh38 Chromosome 10, 67811606: 67811606
3 DNAJC12 NM_021800.2(DNAJC12): c.158-2A> T single nucleotide variant Pathogenic rs775029664 GRCh37 Chromosome 10, 69571423: 69571423

Expression for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Search GEO for disease gene expression data for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient.

Pathways for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

GO Terms for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

Sources for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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