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 53 71 28
Hpanbh4 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
hyperphenylalaninemia, mild, non-bh4-deficient:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphenylalaninemia, Mild, Non-Bh4-Deficient

OMIM : 53 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, and has symptoms including nystagmus, delayed speech and language development and intellectual disability, mild. 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:

53
Neurologic Central Nervous System:
dystonia
intellectual disability, mild
parkinsonism
broad-based gait
extrapyramidal signs
more
Muscle Soft Tissue:
hypotonia

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

Head And Neck Eyes:
nystagmus
oculogyric crises

Neurologic Behavioral Psychiatric Manifestations:
autistic features


Clinical features from OMIM:

617384

Human phenotypes related to Hyperphenylalaninemia, Mild, Non-Bh4-Deficient:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 delayed speech and language development 31 HP:0000750
3 intellectual disability, mild 31 HP:0001256
4 global developmental delay 31 HP:0001263
5 generalized hypotonia 31 HP:0001290
6 parkinsonism 31 HP:0001300
7 dystonia 31 HP:0001332
8 broad-based gait 31 HP:0002136

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:

# Genetic test Affiliating Genes
1 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 28 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
# Symbol AA change Variation ID SNP ID
1 DNAJC12 p.Arg72Pro VAR_078797

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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