HJDD
MCID: ABN011
MIFTS: 26

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

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases
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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 73 38
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome 58 28 5
Pili Torti and Developmental Delay 57 19 73
Pili Torti Developmental Delay Neurological Abnormalities 19 71
Hjdd 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome: Infancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
based on report of 1 patient (last curated june 2019)
normal hair at birth


Classifications:

Orphanet: 58  
Rare skin diseases


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) (Updated 24-Oct-2022)

MalaCards based summary: Abnormal Hair, Joint Laxity, and Developmental Delay, is also known as pili torti-developmental delay-neurological abnormalities syndrome. 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

UniProtKB/Swiss-Prot: 73 An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa.

GARD: 19 Pili 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.

Orphanet: 58 Pili 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.

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

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

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

58 30 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001251
2 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001263
3 growth delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001510
4 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
5 aplasia/hypoplasia of the eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100840
6 pili torti 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003777
7 sparse or absent eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200102
8 abnormality of hair texture 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010719
9 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
10 hypotonia 30 Frequent (33%) HP:0001252
11 dysarthria 30 Very rare (1%) HP:0001260
12 developmental regression 30 Very rare (1%) HP:0002376
13 fatigue 30 Very rare (1%) HP:0012378
14 microdontia 30 Very rare (1%) HP:0000691
15 recurrent otitis media 30 Very rare (1%) HP:0000403
16 alopecia 30 Very rare (1%) HP:0001596
17 mitral regurgitation 30 Very rare (1%) HP:0001653
18 joint hypermobility 30 Very rare (1%) HP:0001382
19 elfin facies 30 Very rare (1%) HP:0004428
20 plagiocephaly 30 Very rare (1%) HP:0001357
21 sparse lateral eyebrow 30 Very rare (1%) HP:0005338
22 keratosis pilaris 30 Very rare (1%) HP:0032152
23 trichorrhexis nodosa 30 Very rare (1%) HP:0009886
24 tricuspid regurgitation 30 Very rare (1%) HP:0005180
25 aggressive behavior 30 Very rare (1%) HP:0000718
26 small nail 30 Very rare (1%) HP:0001792
27 impulsivity 30 Very rare (1%) HP:0100710
28 recurrent fever 30 Very rare (1%) HP:0001954
29 2-3 toe syndactyly 30 Very rare (1%) HP:0004691
30 poor speech 30 Very rare (1%) HP:0002465
31 fragile nails 30 Very rare (1%) HP:0001808
32 clinodactyly of the 5th toe 30 Very rare (1%) HP:0001864
33 short fifth metatarsal 30 Very rare (1%) HP:0004704
34 sinus bradycardia 30 Very rare (1%) HP:0001688
35 lower limb pain 30 Very rare (1%) HP:0012514
36 short fourth metatarsal 30 Very rare (1%) HP:0004689
37 clinodactyly of the 4th toe 30 Very rare (1%) HP:0011918
38 snoring 30 Very rare (1%) HP:0025267
39 increased carrying angle 30 Very rare (1%) HP:0003102
40 muscular hypotonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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

Genetic tests related to Abnormal Hair, Joint Laxity, and Developmental Delay:

# Genetic test Affiliating Genes
1 Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome 28 HEPHL1

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

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

MalaCards : 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. 57 5
31125343 2019
2
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities. 57
1379303 1992

Variations for Abnormal Hair, Joint Laxity, and Developmental Delay

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HEPHL1 NM_001098672.2(HEPHL1):c.1063G>A (p.Ala355Thr) SNV Pathogenic
635195 rs774463623 GRCh37: 11:93800916-93800916
GRCh38: 11:94067750-94067750
2 HEPHL1 NM_001098672.2(HEPHL1):c.3176T>C (p.Met1059Thr) SNV Pathogenic
635196 rs199856193 GRCh37: 11:93844199-93844199
GRCh38: 11:94111033-94111033
3 HEPHL1 NC_000011.9:g.(93754705_93778838)_(93779084_93796673)del DEL Likely Pathogenic
1705100 GRCh37: 11:93754705-93796673
GRCh38:
4 HEPHL1 NM_001098672.2(HEPHL1):c.3050A>G (p.Asp1017Gly) SNV Uncertain Significance
1065424 GRCh37: 11:93844073-93844073
GRCh38: 11:94110907-94110907
5 HEPHL1 NM_001098672.2(HEPHL1):c.751A>G (p.Asn251Asp) SNV Benign
1285336 GRCh37: 11:93797619-93797619
GRCh38: 11:94064453-94064453
6 HEPHL1 NM_001098672.2(HEPHL1):c.1232+9C>G SNV Benign
1285337 GRCh37: 11:93803717-93803717
GRCh38: 11:94070551-94070551
7 HEPHL1 NM_001098672.2(HEPHL1):c.3046-35G>T SNV Benign
1285338 GRCh37: 11:93844034-93844034
GRCh38: 11:94110868-94110868

UniProtKB/Swiss-Prot genetic disease variations for Abnormal Hair, Joint Laxity, and Developmental Delay:

73
# Symbol AA change Variation ID SNP ID
1 HEPHL1 p.Ala355Thr VAR_082700 rs774463623
2 HEPHL1 p.Met1059Thr VAR_082701 rs199856193

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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