THNS
MCID: TRC123
MIFTS: 27

Trichohepatoneurodevelopmental Syndrome (THNS)

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Trichohepatoneurodevelopmental Syndrome

MalaCards integrated aliases for Trichohepatoneurodevelopmental Syndrome:

Name: Trichohepatoneurodevelopmental Syndrome 57 72 6
Thns 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
multiple miscarriages in families of affected individuals


HPO:

31
trichohepatoneurodevelopmental syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichohepatoneurodevelopmental Syndrome

OMIM® : 57 Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018). (618268) (Updated 20-May-2021)

MalaCards based summary : Trichohepatoneurodevelopmental Syndrome, is also known as thns. An important gene associated with Trichohepatoneurodevelopmental Syndrome is CCDC47 (Coiled-Coil Domain Containing 47). The drugs Mefloquine and Scopolamine have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are scoliosis and splenomegaly

UniProtKB/Swiss-Prot : 72 Trichohepatoneurodevelopmental syndrome: An autosomal recessive complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and global developmental delay.

Related Diseases for Trichohepatoneurodevelopmental Syndrome

Symptoms & Phenotypes for Trichohepatoneurodevelopmental Syndrome

Human phenotypes related to Trichohepatoneurodevelopmental Syndrome:

31 (show top 50) (show all 56)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 splenomegaly 31 very rare (1%) HP:0001744
3 hepatomegaly 31 very rare (1%) HP:0002240
4 immunodeficiency 31 very rare (1%) HP:0002721
5 pectus excavatum 31 very rare (1%) HP:0000767
6 cholelithiasis 31 very rare (1%) HP:0001081
7 chronic diarrhea 31 very rare (1%) HP:0002028
8 narrow chest 31 very rare (1%) HP:0000774
9 steatorrhea 31 very rare (1%) HP:0002570
10 recurrent infections 31 very rare (1%) HP:0002719
11 abnormal corpus callosum morphology 31 very rare (1%) HP:0001273
12 eeg abnormality 31 HP:0002353
13 ptosis 31 HP:0000508
14 high palate 31 HP:0000218
15 macroglossia 31 HP:0000158
16 coarse facial features 31 HP:0000280
17 hypertelorism 31 HP:0000316
18 hip dysplasia 31 HP:0001385
19 widely spaced teeth 31 HP:0000687
20 microcephaly 31 HP:0000252
21 coarse hair 31 HP:0002208
22 gastroesophageal reflux 31 HP:0002020
23 brachycephaly 31 HP:0000248
24 microdontia 31 HP:0000691
25 absent speech 31 HP:0001344
26 joint laxity 31 HP:0001388
27 talipes equinovarus 31 HP:0001762
28 dental crowding 31 HP:0000678
29 downturned corners of mouth 31 HP:0002714
30 hip dislocation 31 HP:0002827
31 otitis media 31 HP:0000388
32 bulbous nose 31 HP:0000414
33 severe global developmental delay 31 HP:0011344
34 decreased body weight 31 HP:0004325
35 midface retrusion 31 HP:0011800
36 synophrys 31 HP:0000664
37 plagiocephaly 31 HP:0001357
38 short foot 31 HP:0001773
39 hypoplastic nipples 31 HP:0002557
40 pruritus 31 HP:0000989
41 woolly hair 31 HP:0002224
42 feeding difficulties 31 HP:0011968
43 cerebral atrophy 31 HP:0002059
44 obstructive sleep apnea 31 HP:0002870
45 generalized hypotonia 31 HP:0001290
46 abnormality of the pinna 31 HP:0000377
47 cerebral visual impairment 31 HP:0100704
48 hypermetropia 31 HP:0000540
49 curly hair 31 HP:0002212
50 narrow forehead 31 HP:0000341

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
hypertelorism
synophrys
hyperopia
cortical visual impairment

Skeletal Pelvis:
hip dysplasia
bilateral coxa valga
bilateral hip dislocation

Head And Neck Head:
microcephaly
brachycephaly
plagiocephaly
bitemporal narrowing

Skin Nails Hair Hair:
coarse hair
woolly hair
curly hair

Skeletal:
joint laxity
distal arthrogryposis

Chest Breasts:
hypoplastic nipples

Respiratory Airways:
obstructive sleep apnea

Laboratory Abnormalities:
elevated alkaline phosphatase
elevated alanine aminotransferase (alt)
elevated aspartate aminotransferase (ast)
elevated cholic acid
elevated chenodeoxycholic acid
more
Head And Neck Face:
midface hypoplasia
coarse facies

Head And Neck Ears:
simple ears
otitis media, bilateral

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Nose:
bulbous nasal tip
unusual nose
hypoplasia of nasal bones

Abdomen Spleen:
splenomegaly (in some patients)

Skeletal Hands:
fifth digit hypoplasia
fifth digit clinodactyly

Head And Neck Mouth:
macroglossia
high-arched palate
downturned mouth
full or thick lips

Head And Neck Teeth:
widely spaced teeth
dental crowding
small teeth
underbite

Skeletal Skull:
microcephaly
brachycephaly
plagiocephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
chronic diarrhea (in some patients)
feeding difficulties requiring gastrostomy tube
steatorrhea (in some patients)

Neurologic Central Nervous System:
severe global developmental delay
cerebral atrophy
generalized hypotonia
central sleep apnea
abnormal electroencephalogram
more
Skin Nails Hair Skin:
pruritus
hypertrichosis on chest area

Chest External Features:
hypertrichosis
narrow chest (in some patients)
pectus excavatum (in some patients)

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
overlapping toes
small feet
club feet, bilateral

Growth Weight:
low weight

Immunology:
recurrent infections (in some patients)
immunodeficiency (in some patients)

Abdomen Liver:
hepatomegaly (in some patients)
liver dysfunction

Abdomen Biliary Tract:
gallstones (in some patients)
elevated bile acids

Clinical features from OMIM®:

618268 (Updated 20-May-2021)

Drugs & Therapeutics for Trichohepatoneurodevelopmental Syndrome

Drugs for Trichohepatoneurodevelopmental Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mefloquine Approved, Investigational Phase 1 53230-10-7 4046
2
Scopolamine Approved, Investigational Phase 1 51-34-3, 6533-68-2 5184
3
Donepezil Approved Phase 1 120014-06-4 3152
4 Antiparasitic Agents Phase 1
5 Cholinesterase Inhibitors Phase 1
6 Cholinergic Agents Phase 1
7 Antiprotozoal Agents Phase 1
8 Neurotransmitter Agents Phase 1
9 Nootropic Agents Phase 1
10 Anti-Infective Agents Phase 1
11 Antimalarials Phase 1
12 Butylscopolammonium Bromide Phase 1
13
tannic acid Approved 1401-55-4
14
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double Blind, Placebo-controlled, Randomized, 15-day Treatment, Pharmacodynamics, Safety, and Pharmacokinetics Study of THN201 Versus Donepezil Administered Orally to Healthy Male Volunteers Including a Scopolamine Challenge Completed NCT03698695 Phase 1 THN 201;Donepezil;Placebo
2 Clinical Study of the aura6000™ Targeted Hypoglossal Implantable Neurostimulation (THN) Sleep Therapy System Completed NCT01796925

Search NIH Clinical Center for Trichohepatoneurodevelopmental Syndrome

Genetic Tests for Trichohepatoneurodevelopmental Syndrome

Anatomical Context for Trichohepatoneurodevelopmental Syndrome

MalaCards organs/tissues related to Trichohepatoneurodevelopmental Syndrome:

40
Liver

Publications for Trichohepatoneurodevelopmental Syndrome

Articles related to Trichohepatoneurodevelopmental Syndrome:

(show all 19)
# Title Authors PMID Year
1
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. 6 57
30401460 2018
2
Hospitalization rates among patients with cystic fibrosis using pancreatic enzyme replacement therapy. 61
31984768 2020
3
Novel immediate/sustained-release formulation of acetaminophen-ibuprofen combination (Paxerol®) for severe nocturia associated with overactive bladder: A multi-center, randomized, double blinded, placebo-controlled, 4-arm trial. 61
30592553 2019
4
Mapping the substrate scope of monoamine oxidase (MAO-N) as a synthetic tool for the enantioselective synthesis of chiral amines. 61
28764963 2018
5
Transfection efficiencies of α-tocopherylated cationic gemini lipids with hydroxyethyl bearing headgroups under high serum conditions. 61
29498723 2018
6
Glycine is able to induce both a motility speed in- and decrease during zebrafish neuronal migration. 61
30214676 2018
7
On the Mechanism of Cytoprotection by Ferrostatin-1 and Liproxstatin-1 and the Role of Lipid Peroxidation in Ferroptotic Cell Death. 61
28386601 2017
8
Tantalum oxide honeycomb architectures for the development of a non-enzymatic glucose sensor with wide detection range. 61
23911662 2013
9
Involvement of a putative cyclic amp receptor protein (CRP)-like binding sequence and a CRP-like protein in glucose-mediated catabolite repression of thn genes in Rhodococcus sp. strain TFB. 61
22636000 2012
10
Telehomecare communication and self-care in chronic conditions: moving toward a shared understanding. 61
22409374 2012
11
Dissolved oxygen as an indicator of bioavailable dissolved organic carbon in groundwater. 61
21707614 2012
12
Molecular and biochemical characterization of the tetralin degradation pathway in Rhodococcus sp. strain TFB. 61
21261920 2009
13
Biochemical indicators for the bioavailability of organic carbon in ground water. 61
18793203 2009
14
Molecular analysis of the role of tyrosine 224 in the active site of Streptomyces coelicolor RppA, a bacterial type III polyketide synthase. 61
17331946 2007
15
Chip-based polyketide biosynthesis and functionalization. 61
16889386 2006
16
Crystal structure of a bacterial type III polyketide synthase and enzymatic control of reactive polyketide intermediates. 61
15265863 2004
17
Expression and characterization of the type III polyketide synthase 1,3,6,8-tetrahydroxynaphthalene synthase from Streptomyces coelicolor A3(2). 61
12905073 2003
18
Plant-like biosynthetic pathways in bacteria: from benzoic acid to chalcone. 61
12502351 2002
19
NMR studies of hemoproteins. VI. Acid-base transitions of ferric myoglobin and its imidazole complex. 61
238653 1975

Variations for Trichohepatoneurodevelopmental Syndrome

ClinVar genetic disease variations for Trichohepatoneurodevelopmental Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC47 NM_020198.3(CCDC47):c.1145del (p.Leu382fs) Deletion Pathogenic 562187 rs750123815 GRCh37: 17:61829738-61829738
GRCh38: 17:63752378-63752378
2 CCDC47 NM_020198.3(CCDC47):c.811C>T (p.Arg271Ter) SNV Pathogenic 562186 rs749027804 GRCh37: 17:61833855-61833855
GRCh38: 17:63756495-63756495
3 CCDC47 NM_020198.3(CCDC47):c.1165del (p.Ser389fs) Deletion Pathogenic 562185 rs1568246398 GRCh37: 17:61829718-61829718
GRCh38: 17:63752358-63752358
4 CCDC47 NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) SNV Pathogenic 562184 rs1269750663 GRCh37: 17:61829694-61829694
GRCh38: 17:63752334-63752334
5 CCDC47 NM_020198.3(CCDC47):c.567_570del (p.Glu190fs) Deletion Likely pathogenic 993035 GRCh37: 17:61838689-61838692
GRCh38: 17:63761329-63761332

Expression for Trichohepatoneurodevelopmental Syndrome

Search GEO for disease gene expression data for Trichohepatoneurodevelopmental Syndrome.

Pathways for Trichohepatoneurodevelopmental Syndrome

GO Terms for Trichohepatoneurodevelopmental Syndrome

Sources for Trichohepatoneurodevelopmental Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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