THNS
MCID: TRC123
MIFTS: 18

Trichohepatoneurodevelopmental Syndrome (THNS)

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Trichohepatoneurodevelopmental Syndrome

MalaCards integrated aliases for Trichohepatoneurodevelopmental Syndrome:

Name: Trichohepatoneurodevelopmental Syndrome 58 76 6
Thns 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
multiple miscarriages in families of affected individuals


Classifications:



Summaries for Trichohepatoneurodevelopmental Syndrome

OMIM : 58 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)

MalaCards based summary : Trichohepatoneurodevelopmental Syndrome, is also known as thns. An important gene associated with Trichohepatoneurodevelopmental Syndrome is CCDC47 (Coiled-Coil Domain Containing 47). Related phenotypes are pectus excavatum and hepatomegaly

UniProtKB/Swiss-Prot : 76 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:

33 (show all 49)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 very rare (1%) HP:0000767
2 hepatomegaly 33 very rare (1%) HP:0002240
3 immunodeficiency 33 very rare (1%) HP:0002721
4 narrow chest 33 very rare (1%) HP:0000774
5 cholelithiasis 33 very rare (1%) HP:0001081
6 recurrent infections 33 very rare (1%) HP:0002719
7 chronic diarrhea 33 very rare (1%) HP:0002028
8 steatorrhea 33 very rare (1%) HP:0002570
9 abnormal corpus callosum morphology 33 very rare (1%) HP:0001273
10 hypertelorism 33 HP:0000316
11 high palate 33 HP:0000218
12 ptosis 33 HP:0000508
13 eeg abnormality 33 HP:0002353
14 macroglossia 33 HP:0000158
15 coarse facial features 33 HP:0000280
16 widely spaced teeth 33 HP:0000687
17 hip dysplasia 33 HP:0001385
18 microcephaly 33 HP:0000252
19 coarse hair 33 HP:0002208
20 gastroesophageal reflux 33 HP:0002020
21 brachycephaly 33 HP:0000248
22 decreased liver function 33 HP:0001410
23 pruritus 33 HP:0000989
24 severe global developmental delay 33 HP:0011344
25 short foot 33 HP:0001773
26 microdontia 33 HP:0000691
27 absent speech 33 HP:0001344
28 abnormality of the pinna 33 HP:0000377
29 joint laxity 33 HP:0001388
30 talipes equinovarus 33 HP:0001762
31 dental crowding 33 HP:0000678
32 downturned corners of mouth 33 HP:0002714
33 bulbous nose 33 HP:0000414
34 otitis media 33 HP:0000388
35 midface retrusion 33 HP:0011800
36 curly hair 33 HP:0002212
37 synophrys 33 HP:0000664
38 plagiocephaly 33 HP:0001357
39 woolly hair 33 HP:0002224
40 generalized hypotonia 33 HP:0001290
41 cerebral atrophy 33 HP:0002059
42 elevated alkaline phosphatase 33 HP:0003155
43 cerebral visual impairment 33 HP:0100704
44 hypermetropia 33 HP:0000540
45 narrow forehead 33 HP:0000341
46 central sleep apnea 33 HP:0010536
47 bilateral coxa valga 33 HP:0010665
48 overlapping toe 33 HP:0001845
49 distal arthrogryposis 33 HP:0005684

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
synophrys
hyperopia
cortical visual impairment

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

Head And Neck Head:
microcephaly
brachycephaly
plagiocephaly
bitemporal narrowing

Skin Nails Hair Hair:
coarse hair
curly hair
woolly hair

Skin Nails Hair Skin:
pruritus
hypertrichosis on chest area

Skeletal:
joint laxity
distal arthrogryposis

Chest Breasts:
hypoplastic nipples

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

Head And Neck Face:
midface hypoplasia
coarse facies

Head And Neck Ears:
simple ears
otitis media, bilateral

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

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

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

Skeletal Pelvis:
hip dysplasia
bilateral coxa valga
bilateral hip dislocation

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
generalized hypotonia
cerebral atrophy
central sleep apnea
abnormal electroencephalogram
more
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
Muscle Soft Tissue:
hypotonia

Skeletal Feet:
overlapping toes
small feet
club feet, bilateral

Growth Weight:
low weight

Skeletal Spine:
scoliosis (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

Drugs & Therapeutics for Trichohepatoneurodevelopmental Syndrome

Search Clinical Trials , NIH Clinical Center for Trichohepatoneurodevelopmental Syndrome

Genetic Tests for Trichohepatoneurodevelopmental Syndrome

Anatomical Context for Trichohepatoneurodevelopmental Syndrome

Publications for Trichohepatoneurodevelopmental Syndrome

Articles related to Trichohepatoneurodevelopmental Syndrome:

# Title Authors Year
1
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay. ( 30401460 )
2018

Variations for Trichohepatoneurodevelopmental Syndrome

ClinVar genetic disease variations for Trichohepatoneurodevelopmental Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC47 NM_020198.2(CCDC47): c.1189C> T (p.Arg397Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 61829694: 61829694
2 CCDC47 NM_020198.2(CCDC47): c.1189C> T (p.Arg397Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 63752334: 63752334
3 CCDC47 NM_020198.3(CCDC47): c.1165del (p.Ser389Leufs) deletion Likely pathogenic GRCh38 Chromosome 17, 63752358: 63752358
4 CCDC47 NM_020198.3(CCDC47): c.1165del (p.Ser389Leufs) deletion Likely pathogenic GRCh37 Chromosome 17, 61829718: 61829718
5 CCDC47 NM_020198.3(CCDC47): c.1145del (p.Leu382Argfs) deletion Likely pathogenic GRCh37 Chromosome 17, 61829738: 61829738
6 CCDC47 NM_020198.3(CCDC47): c.1145del (p.Leu382Argfs) deletion Likely pathogenic GRCh38 Chromosome 17, 63752378: 63752378
7 CCDC47 NM_020198.2(CCDC47): c.811C> T (p.Arg271Ter) single nucleotide variant Likely pathogenic rs749027804 GRCh37 Chromosome 17, 61833855: 61833855
8 CCDC47 NM_020198.2(CCDC47): c.811C> T (p.Arg271Ter) single nucleotide variant Likely pathogenic rs749027804 GRCh38 Chromosome 17, 63756495: 63756495

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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