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 53 6 72
Pili Torti and Developmental Delay 53

Classifications:



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UMLS 72 C1849811

Summaries for Pili Torti Developmental Delay Neurological Abnormalities

NIH Rare Diseases : 53 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

Variations for Pili Torti Developmental Delay Neurological Abnormalities

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HEPHL1 NM_001098672.2(HEPHL1): c.1063G> A (p.Ala355Thr) single nucleotide variant Pathogenic 11:93800916-93800916 11:94067750-94067750
2 HEPHL1 NM_001098672.2(HEPHL1): c.3176T> C (p.Met1059Thr) single nucleotide variant Pathogenic 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

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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