MCID: PLT009
MIFTS: 8

Pili Torti Developmental Delay Neurological Abnormalities

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Pili Torti Developmental Delay Neurological Abnormalities

MalaCards integrated aliases for Pili Torti Developmental Delay Neurological Abnormalities:

Name: Pili Torti Developmental Delay Neurological Abnormalities 20 6 71
Pili Torti and Developmental Delay 20

Classifications:



External Ids:

UMLS 71 C1849811

Summaries for Pili Torti Developmental Delay Neurological Abnormalities

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2891DefinitionPili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pili Torti Developmental Delay Neurological Abnormalities, also known as pili torti and developmental delay, is related to abnormal hair, joint laxity, and developmental delay. An important gene associated with Pili Torti Developmental Delay Neurological Abnormalities is HEPHL1 (Hephaestin Like 1).

Related Diseases for Pili Torti Developmental Delay Neurological Abnormalities

Diseases related to Pili Torti Developmental Delay Neurological Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 abnormal hair, joint laxity, and developmental delay 11.8

Symptoms & Phenotypes for Pili Torti Developmental Delay Neurological Abnormalities

Drugs & Therapeutics for Pili Torti Developmental Delay Neurological Abnormalities

Search Clinical Trials , NIH Clinical Center for Pili Torti Developmental Delay Neurological Abnormalities

Genetic Tests for Pili Torti Developmental Delay Neurological Abnormalities

Anatomical Context for Pili Torti Developmental Delay Neurological Abnormalities

Publications for Pili Torti Developmental Delay Neurological Abnormalities

Articles related to Pili Torti Developmental Delay Neurological Abnormalities:

# Title Authors PMID Year
1
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 6
31125343 2019

Variations for Pili Torti Developmental Delay Neurological Abnormalities

ClinVar genetic disease variations for Pili Torti Developmental Delay Neurological Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HEPHL1 NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr) SNV Pathogenic 635195 rs774463623 11:93800916-93800916 11:94067750-94067750
2 HEPHL1 NM_001098672.2(HEPHL1):c.3176T>C (p.Met1059Thr) SNV Pathogenic 635196 rs199856193 11:93844199-93844199 11:94111033-94111033

Expression for Pili Torti Developmental Delay Neurological Abnormalities

Search GEO for disease gene expression data for Pili Torti Developmental Delay Neurological Abnormalities.

Pathways for Pili Torti Developmental Delay Neurological Abnormalities

GO Terms for Pili Torti Developmental Delay Neurological Abnormalities

Sources for Pili Torti Developmental Delay Neurological Abnormalities

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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