MCCPD
MCID: MCR315
MIFTS: 27

Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis (MCCPD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

MalaCards integrated aliases for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

Name: Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 57 72 29 6
Sc4mol Deficiency 57 72
Mccpd 57 72
Microcephaly-Congenital Cataract-Psoriasiform Dermatitis Syndrome 58
Sterol-C4-Methyl Oxidase Deficiency 58
Smo Deficiency 58

Characteristics:

OMIM®:

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

Miscellaneous:
heterozygotes exhibit subclinical metabolic and immunologic abnormalities
based on report of 2 unrelated patients (last curated february 2016)


HPO:

31
microcephaly, congenital cataract, and psoriasiform dermatitis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

OMIM® : 57 SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014). (616834) (Updated 20-May-2021)

MalaCards based summary : Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis, also known as sc4mol deficiency, is related to microcephaly and cataract. An important gene associated with Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis is MSMO1 (Methylsterol Monooxygenase 1). Affiliated tissues include eye and bone, and related phenotypes are failure to thrive and global developmental delay

UniProtKB/Swiss-Prot : 72 Microcephaly, congenital cataract, and psoriasiform dermatitis: An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay.

Related Diseases for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Diseases related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.2
2 cataract 10.2
3 learning disability 10.2
4 strabismus 10.0
5 alacrima, achalasia, and mental retardation syndrome 10.0
6 myopia 10.0
7 dermatitis 10.0
8 mechanical strabismus 10.0
9 pathologic nystagmus 10.0

Graphical network of the top 20 diseases related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:



Diseases related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Symptoms & Phenotypes for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Human phenotypes related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 global developmental delay 31 HP:0001263
3 delayed skeletal maturation 31 HP:0002750
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 ichthyosis 31 HP:0008064
7 delayed puberty 31 HP:0000823
8 intellectual disability, mild 31 HP:0001256
9 arthralgia 31 HP:0002829
10 blepharitis 31 HP:0000498
11 hypocholesterolemia 31 HP:0003146
12 decreased ldl cholesterol concentration 31 HP:0003563
13 psoriasiform dermatitis 31 HP:0003765
14 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Female:
delayed puberty

Head And Neck Eyes:
blepharitis
cataract, congenital

Neurologic Central Nervous System:
mental retardation, mild

Skeletal Limbs:
arthralgias
joint contractures, especially of lower extremities

Skin Nails Hair Skin Histology:
psoriasiform hyperplasia
dilated capillaries in dermal papillae
neutrophils in epidermis
neutrophils in stratum corneum
cd68-negative lipid-containing foamy cells in dermis

Skin Nails Hair Hair:
fine, lusterless hair

Growth Height:
short stature

Endocrine Features:
delayed puberty

Skeletal:
delayed bone age

Growth Weight:
low weight

Immunology:
elevated il6
markedly elevated ige
markedly elevated iga
increase in cd16+ activated granulocytes
increase in tlr2+ /tlr4- granulocytes
more
Skin Nails Hair Skin:
ichthyosiform erythroderma sparing the palms

Metabolic Features:
low total cholesterol
low hdl
low ldl

Clinical features from OMIM®:

616834 (Updated 20-May-2021)

Drugs & Therapeutics for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Search Clinical Trials , NIH Clinical Center for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Genetic Tests for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Genetic tests related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

# Genetic test Affiliating Genes
1 Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis 29 MSMO1

Anatomical Context for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

MalaCards organs/tissues related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

40
Eye, Bone

Publications for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Articles related to Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

# Title Authors PMID Year
1
The role of sterol-C4-methyl oxidase in epidermal biology. 61 57 6
24144731 2014
2
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. 6 57
21285510 2011
3
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. 61
33161406 2020
4
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization. 61
28673550 2017
5
Sterol metabolism disorders and neurodevelopment-an update. 61
23798009 2013
6
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. 61
23042573 2012

Variations for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

ClinVar genetic disease variations for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSMO1 NM_006745.5(MSMO1):c.736G>C (p.Gly246Arg) SNV Pathogenic 222976 rs869025577 GRCh37: 4:166262952-166262952
GRCh38: 4:165341800-165341800
2 MSMO1 NM_006745.5(MSMO1):c.519T>A (p.His173Gln) SNV Pathogenic 222974 rs869025576 GRCh37: 4:166259918-166259918
GRCh38: 4:165338766-165338766
3 MSMO1 NM_006745.5(MSMO1):c.731A>G (p.Tyr244Cys) SNV Pathogenic 222975 rs760048191 GRCh37: 4:166262947-166262947
GRCh38: 4:165341795-165341795

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis:

72
# Symbol AA change Variation ID SNP ID
1 MSMO1 p.His173Gln VAR_076532 rs869025576
2 MSMO1 p.Tyr244Cys VAR_076533 rs760048191

Expression for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Search GEO for disease gene expression data for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis.

Pathways for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

GO Terms for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

Sources for Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis

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
Content
Loading form....