BTDD
MCID: BRC106
MIFTS: 22

Brachycephaly, Trichomegaly, and Developmental Delay (BTDD)

Categories: Genetic diseases

Aliases & Classifications for Brachycephaly, Trichomegaly, and Developmental Delay

MalaCards integrated aliases for Brachycephaly, Trichomegaly, and Developmental Delay:

Name: Brachycephaly, Trichomegaly, and Developmental Delay 57 72 39
Macinnes Syndrome 57 72 6
Mcins 57 72
Btdd 57 72
Macinnes Syndrome; Mcins 57

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
two unrelated patients have been reported (last curated march 2017)


HPO:

31
brachycephaly, trichomegaly, and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Brachycephaly, Trichomegaly, and Developmental Delay

UniProtKB/Swiss-Prot : 72 Brachycephaly, trichomegaly, and developmental delay: An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients.

MalaCards based summary : Brachycephaly, Trichomegaly, and Developmental Delay, also known as macinnes syndrome, is related to drug dependence. An important gene associated with Brachycephaly, Trichomegaly, and Developmental Delay is RPS23 (Ribosomal Protein S23). Related phenotypes are high palate and depressed nasal bridge

OMIM® : 57 BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017). (617412) (Updated 20-May-2021)

Related Diseases for Brachycephaly, Trichomegaly, and Developmental Delay

Diseases related to Brachycephaly, Trichomegaly, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 drug dependence 10.0

Symptoms & Phenotypes for Brachycephaly, Trichomegaly, and Developmental Delay

Human phenotypes related to Brachycephaly, Trichomegaly, and Developmental Delay:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 depressed nasal bridge 31 HP:0005280
3 microcephaly 31 HP:0000252
4 thick eyebrow 31 HP:0000574
5 short stature 31 HP:0004322
6 intellectual disability, mild 31 HP:0001256
7 cleft palate 31 HP:0000175
8 low-set ears 31 HP:0000369
9 epicanthus 31 HP:0000286
10 motor delay 31 HP:0001270
11 increased number of teeth 31 HP:0011069
12 conductive hearing impairment 31 HP:0000405
13 highly arched eyebrow 31 HP:0002553
14 flat occiput 31 HP:0005469
15 long eyelashes 31 HP:0000527
16 single transverse palmar crease 31 HP:0000954
17 autistic behavior 31 HP:0000729
18 generalized hypotonia 31 HP:0001290
19 abnormality of the pinna 31 HP:0000377
20 brittle hair 31 HP:0002299

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Head And Neck Eyes:
long eyelashes
epicanthal folds
bushy eyebrows
arched eyebrows

Head And Neck Nose:
low nasal bridge

Neurologic Central Nervous System:
learning disabilities (patient a)
intellectual disability, mild (patient a)
delayed motor development (patient b)

Head And Neck Mouth:
high-arched palate (patient a)
cleft palate (patient b)

Skeletal:
loose joints (patient a)

Skin Nails Hair Skin:
elastic skin (patient a)
pigmented skin (patient a)

Muscle Soft Tissue:
hypotonia (patient a)

Head And Neck Ears:
low-set ears
hearing loss, conductive
deformed ears
hearing loss, unilateral

Skeletal Hands:
single transverse palmar crease
short fingers
fetal finger pads

Skin Nails Hair Nails:
abnormal nails

Head And Neck Head:
microcephaly (-2.5 sd)

Head And Neck Teeth:
extra teeth (patient a)

Skeletal Skull:
flat back of the skull

Skin Nails Hair Hair:
hairy armpits
low back hairline
thin brittle hair (patient a)

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (patient a)

Clinical features from OMIM®:

617412 (Updated 20-May-2021)

Drugs & Therapeutics for Brachycephaly, Trichomegaly, and Developmental Delay

Search Clinical Trials , NIH Clinical Center for Brachycephaly, Trichomegaly, and Developmental Delay

Genetic Tests for Brachycephaly, Trichomegaly, and Developmental Delay

Anatomical Context for Brachycephaly, Trichomegaly, and Developmental Delay

Publications for Brachycephaly, Trichomegaly, and Developmental Delay

Articles related to Brachycephaly, Trichomegaly, and Developmental Delay:

(show all 14)
# Title Authors PMID Year
1
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. 6 57
28257692 2017
2
Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy. 57
26982655 2016
3
Electrochromic two-dimensional covalent organic framework with a reversible dark-to-transparent switch. 61
33139714 2020
4
Flexural strength and surface microhardness of materials used for temporary dental disocclusion submitted to thermal cycling: An in vitro study. 61
32417201 2020
5
A New Paradigm in Mechanical Circulatory Support: 100-Patient Experience. 61
31563492 2020
6
Cyclic gas-phase heterogeneous process in a metal-organic framework involving a nickel nitrosyl complex. 61
28608896 2017
7
Is iron unique in promoting electrical conductivity in MOFs? 61
28616149 2017
8
Single-Site Heterogeneous Catalysts for Olefin Polymerization Enabled by Cation Exchange in a Metal-Organic Framework. 61
27443860 2016
9
Selective Dimerization of Ethylene to 1-Butene with a Porous Catalyst. 61
27163041 2016
10
Postsynthetic Metal and Ligand Exchange in MFU-4l: A Screening Approach toward Functional Metal-Organic Frameworks Comprising Single-Site Active Centers. 61
25882594 2015
11
Elucidating gating effects for hydrogen sorption in MFU-4-type triazolate-based metal-organic frameworks featuring different pore sizes. 61
21274935 2011
12
Developing therapies for depression in drug dependence: results of a stage 1 therapy study. 61
18821458 2008
13
Behavior therapy for depression in drug dependence (BTDD): results of a stage Ia therapy development pilot. 61
17127541 2006
14
Dysfunctional disorders of the biliary tract. 61
8902933 1996

Variations for Brachycephaly, Trichomegaly, and Developmental Delay

ClinVar genetic disease variations for Brachycephaly, Trichomegaly, and Developmental Delay:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPS23 NM_001025.5(RPS23):c.200G>A (p.Arg67Lys) SNV Pathogenic 417763 rs1060505034 GRCh37: 5:81572302-81572302
GRCh38: 5:82276483-82276483
2 RPS23 NM_001025.5(RPS23):c.358T>A (p.Phe120Ile) SNV Pathogenic 417764 rs1060505035 GRCh37: 5:81572002-81572002
GRCh38: 5:82276183-82276183
3 RPS23 NM_001025.5(RPS23):c.139G>A (p.Ala47Thr) SNV Uncertain significance 1030028 GRCh37: 5:81573537-81573537
GRCh38: 5:82277718-82277718

UniProtKB/Swiss-Prot genetic disease variations for Brachycephaly, Trichomegaly, and Developmental Delay:

72
# Symbol AA change Variation ID SNP ID
1 RPS23 p.Arg67Lys VAR_079133 rs106050503
2 RPS23 p.Phe120Ile VAR_079134 rs106050503

Expression for Brachycephaly, Trichomegaly, and Developmental Delay

Search GEO for disease gene expression data for Brachycephaly, Trichomegaly, and Developmental Delay.

Pathways for Brachycephaly, Trichomegaly, and Developmental Delay

GO Terms for Brachycephaly, Trichomegaly, and Developmental Delay

Sources for Brachycephaly, Trichomegaly, and Developmental Delay

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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