THNS
MCID: TRC123
MIFTS: 12

Trichohepatoneurodevelopmental Syndrome (THNS)

Categories: Genetic diseases

Aliases & Classifications for Trichohepatoneurodevelopmental Syndrome

MalaCards integrated aliases for Trichohepatoneurodevelopmental Syndrome:

Name: Trichohepatoneurodevelopmental Syndrome 58 6
Thns 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
multiple miscarriages in families of affected individuals


Classifications:



External Ids:

OMIM 58 618268

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). Affiliated tissues include bone.

Related Diseases for Trichohepatoneurodevelopmental Syndrome

Symptoms & Phenotypes for Trichohepatoneurodevelopmental Syndrome

Symptoms via clinical synopsis from OMIM:

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

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

Growth Weight:
low weight

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

Head And Neck Ears:
simple ears
otitis media, bilateral

Skeletal Feet:
overlapping toes
small feet
club feet, bilateral

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

MalaCards organs/tissues related to Trichohepatoneurodevelopmental Syndrome:

42
Bone

Publications for Trichohepatoneurodevelopmental Syndrome

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
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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