Abnormal Hair, Joint Laxity, and Developmental Delay disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Abnormal Hair, Joint Laxity, and Developmental Delay

MalaCards integrated aliases for Abnormal Hair, Joint Laxity, and Developmental Delay:

Name: Abnormal Hair, Joint Laxity, and Developmental Delay ⁵⁷

Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome ⁵⁹

Pili Torti and Developmental Delay ⁵⁷

Hjdd ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated june 2019)
normal hair at birth

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare skin diseases

External Ids:

OMIM ⁵⁷ 261990

MESH via Orphanet ⁴⁵ C537398

UMLS via Orphanet ⁷³ C1849811

Orphanet ⁵⁹ ORPHA2891

MedGen ⁴² C1849811

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Summaries for Abnormal Hair, Joint Laxity, and Developmental Delay

OMIM : ⁵⁷ Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019). (261990)

MalaCards based summary : Abnormal Hair, Joint Laxity, and Developmental Delay, also known as pili torti-developmental delay-neurological abnormalities syndrome, is related to pili torti developmental delay neurological abnormalities. An important gene associated with Abnormal Hair, Joint Laxity, and Developmental Delay is HEPHL1 (Hephaestin Like 1). Affiliated tissues include skin, and related phenotypes are ataxia and global developmental delay

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Related Diseases for Abnormal Hair, Joint Laxity, and Developmental Delay

Diseases related to Abnormal Hair, Joint Laxity, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	pili torti developmental delay neurological abnormalities	11.7

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Symptoms & Phenotypes for Abnormal Hair, Joint Laxity, and Developmental Delay

Human phenotypes related to Abnormal Hair, Joint Laxity, and Developmental Delay:

⁵⁹ ³² (show all 10)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	ataxia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001251
2	global developmental delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001263
3	joint hyperflexibility ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005692
4	growth delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001510
5	aplasia/hypoplasia of the eyebrow ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100840
6	pili torti ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003777
7	sparse or absent eyelashes ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0200102
8	abnormality of hair texture ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010719
9	muscular hypotonia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001252
10	gait disturbance ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001288

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Limbs:
joint hypermobility
increased carrying angle at elbows

Skin Nails Hair Hair:
trichorrhexis nodosa
pili torti
sparse eyebrows
absent lateral third of eyelashes
coarse brittle scalp hair
more

Head And Neck Teeth:
small teeth
slightly discolored teeth

Neurologic Central Nervous System:
cognitive delay
poor speech articulation

Skeletal Hands:
increased mobility of thumbs
short fourth and fifth metacarpals

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder

Head And Neck Face:
elfin facies

Skin Nails Hair Nails:
hypoplastic nails
brittle nails

Head And Neck Eyes:
sparse eyebrows
absent lateral third of eyelashes
prominent markings of upper eyelids
prominent infraorbital folds

Cardiovascular Heart:
mitral regurgitation, mild
tricuspid regurgitation, mild
pulmonic regurgitation, mild

Skeletal Feet:
clinodactyly, mild (toes 4-5)
syndactyly (toes 2-3)

Clinical features from OMIM:

261990

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Drugs & Therapeutics for Abnormal Hair, Joint Laxity, and Developmental Delay

Search Clinical Trials , NIH Clinical Center for Abnormal Hair, Joint Laxity, and Developmental Delay

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Genetic Tests for Abnormal Hair, Joint Laxity, and Developmental Delay

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Anatomical Context for Abnormal Hair, Joint Laxity, and Developmental Delay

MalaCards organs/tissues related to Abnormal Hair, Joint Laxity, and Developmental Delay:

⁴¹

Skin

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Publications for Abnormal Hair, Joint Laxity, and Developmental Delay

Articles related to Abnormal Hair, Joint Laxity, and Developmental Delay:

#	Title	Authors	PMID	Year
1	Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. ⁸ ⁷¹	Sharma P...Malicdan MCV	31125343	2019
2	Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. ⁸	Shapira SK...Pober BR	1379303	1992

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Genes for Abnormal Hair, Joint Laxity, and Developmental Delay

Genes related to Abnormal Hair, Joint Laxity, and Developmental Delay (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HEPHL1	Hephaestin Like 1	Protein Coding	950	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷	31125343

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Variations for Abnormal Hair, Joint Laxity, and Developmental Delay

ClinVar genetic disease variations for Abnormal Hair, Joint Laxity, and Developmental Delay:

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

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Expression for Abnormal Hair, Joint Laxity, and Developmental Delay

Search GEO for disease gene expression data for Abnormal Hair, Joint Laxity, and Developmental Delay.

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Pathways for Abnormal Hair, Joint Laxity, and Developmental Delay

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GO Terms for Abnormal Hair, Joint Laxity, and Developmental Delay

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Sources for Abnormal Hair, Joint Laxity, and Developmental Delay

¹ BioSystems

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²⁵ Genetics Home Reference

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³³ ICD10

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³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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³⁹ LncRNADisease

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⁴¹ MalaCards

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

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⁶⁰ PathCards

⁶¹ PharmGKB

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Abnormal Hair, Joint Laxity, and Developmental Delay (HJDD)

Aliases & Classifications for Abnormal Hair, Joint Laxity, and Developmental Delay

MalaCards integrated aliases for Abnormal Hair, Joint Laxity, and Developmental Delay:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Abnormal Hair, Joint Laxity, and Developmental Delay

Related Diseases for Abnormal Hair, Joint Laxity, and Developmental Delay

Diseases related to Abnormal Hair, Joint Laxity, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Abnormal Hair, Joint Laxity, and Developmental Delay

Human phenotypes related to Abnormal Hair, Joint Laxity, and Developmental Delay:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Abnormal Hair, Joint Laxity, and Developmental Delay

Genetic Tests for Abnormal Hair, Joint Laxity, and Developmental Delay

Anatomical Context for Abnormal Hair, Joint Laxity, and Developmental Delay

MalaCards organs/tissues related to Abnormal Hair, Joint Laxity, and Developmental Delay:

Publications for Abnormal Hair, Joint Laxity, and Developmental Delay

Articles related to Abnormal Hair, Joint Laxity, and Developmental Delay:

Genes for Abnormal Hair, Joint Laxity, and Developmental Delay

Genes related to Abnormal Hair, Joint Laxity, and Developmental Delay (1 elite genes):

Variations for Abnormal Hair, Joint Laxity, and Developmental Delay

ClinVar genetic disease variations for Abnormal Hair, Joint Laxity, and Developmental Delay:

Expression for Abnormal Hair, Joint Laxity, and Developmental Delay

Pathways for Abnormal Hair, Joint Laxity, and Developmental Delay

GO Terms for Abnormal Hair, Joint Laxity, and Developmental Delay

Sources for Abnormal Hair, Joint Laxity, and Developmental Delay