HJDD
MCID: ABN011
MIFTS: 18

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

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

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:

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

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

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

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

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

Search Clinical Trials , NIH Clinical Center 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:

41
Skin

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
31125343 2019
2
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. 8
1379303 1992

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

Expression for Abnormal Hair, Joint Laxity, and Developmental Delay

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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