MICCAP
MCID: MCR183
MIFTS: 33

Microcephaly-Capillary Malformation Syndrome (MICCAP)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Microcephaly-Capillary Malformation Syndrome

MalaCards integrated aliases for Microcephaly-Capillary Malformation Syndrome:

Name: Microcephaly-Capillary Malformation Syndrome 57 25 43 58 72 36 29 6 39 70
Mic-Cap Syndrome 25 43 58
Miccap 57 72
Microcephaly-Cutaneous Capillary Malformation Syndrome 58
Mic-Cm Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
microcephaly-capillary malformation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
capillary malformation are apparent at birth
seizures usually occur in the first months of life
one patient was less severely affected
variable facial dysmorphic features
variable cardiac defects


HPO:

31
microcephaly-capillary malformation syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly-Capillary Malformation Syndrome

MedlinePlus Genetics : 43 Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).In people with microcephaly-capillary malformation syndrome, microcephaly begins before birth and is associated with an unusually small brain and multiple brain abnormalities. Affected individuals develop seizures that can occur many times per day and are difficult to treat (intractable epilepsy). The problems with brain development and epilepsy lead to profound developmental delay and intellectual impairment. Most affected individuals do not develop skills beyond those of a 1- or 2-month-old infant. For example, most children with this condition are never able to control their head movements or sit unassisted.Capillary malformations are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like pink or red spots on the skin. People with microcephaly-capillary malformation syndrome are born with anywhere from a few to hundreds of these spots, which can occur anywhere on the body. The spots are usually round or oval-shaped and range in size from the head of a pin to a large coin.Other signs and symptoms of microcephaly-capillary malformation syndrome include abnormal movements, feeding difficulties, slow growth, and short stature. Most affected individuals have abnormalities of the fingers and toes, including digits with tapered ends and abnormally small or missing fingernails and toenails. Some affected children also have distinctive facial features and an unusual pattern of hair growth on the scalp.

MalaCards based summary : Microcephaly-Capillary Malformation Syndrome, also known as mic-cap syndrome, is related to microcephaly and west syndrome, and has symptoms including myoclonus An important gene associated with Microcephaly-Capillary Malformation Syndrome is STAMBP (STAM Binding Protein). Affiliated tissues include brain and skin, and related phenotypes are short stature and vesicoureteral reflux

OMIM® : 57 The microcephaly-capillary malformation syndrome is a congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects (summary by Carter et al., 2011 and Mirzaa et al., 2011). (614261) (Updated 05-Apr-2021)

KEGG : 36 Microcephaly-capillary malformation (MIC-CAP) syndrome is a autosomal recessive congenital neurocutaneous disorder characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay, and multiple small capillary malformations on the skin. In addition, affected patients have variable dysmorphic facial features and hypoplastic distal phalanges. Dysmorphic features include whorled hair pattern, low frontal hairline, hypertelorism, ptosis, epicanthic folds, long palpebral fissures, cleft palate, thin upper lip, short nose, low-set ears, and maxillary hypoplasia. Almost all patients exhibit variable degrees of distal limb abnormalities. Mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome.

UniProtKB/Swiss-Prot : 72 Microcephaly-capillary malformation syndrome: A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects.

GeneReviews: NBK174452

Related Diseases for Microcephaly-Capillary Malformation Syndrome

Diseases related to Microcephaly-Capillary Malformation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 microcephaly 10.5
2 west syndrome 10.2
3 yemenite deaf-blind hypopigmentation syndrome 10.0
4 congenital hypothyroidism 10.0
5 autosomal recessive disease 10.0
6 hypothyroidism 10.0
7 epilepsy 10.0
8 hypertonia 10.0
9 hypotonia 10.0
10 myoclonus 10.0
11 spasticity 10.0
12 congestive heart failure 10.0

Graphical network of the top 20 diseases related to Microcephaly-Capillary Malformation Syndrome:



Diseases related to Microcephaly-Capillary Malformation Syndrome

Symptoms & Phenotypes for Microcephaly-Capillary Malformation Syndrome

Human phenotypes related to Microcephaly-Capillary Malformation Syndrome:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
3 failure to thrive 31 HP:0001508
4 ptosis 31 HP:0000508
5 hearing impairment 31 HP:0000365
6 hypertelorism 31 HP:0000316
7 short nose 31 HP:0003196
8 optic atrophy 31 HP:0000648
9 myoclonus 31 HP:0001336
10 cleft palate 31 HP:0000175
11 low-set ears 31 HP:0000369
12 hypoplasia of the maxilla 31 HP:0000327
13 brachydactyly 31 HP:0001156
14 ventricular septal defect 31 HP:0001629
15 short distal phalanx of finger 31 HP:0009882
16 severe global developmental delay 31 HP:0011344
17 wide nose 31 HP:0000445
18 sloping forehead 31 HP:0000340
19 hypoplasia of the corpus callosum 31 HP:0002079
20 spastic tetraparesis 31 HP:0001285
21 cerebral atrophy 31 HP:0002059
22 small for gestational age 31 HP:0001518
23 generalized hypotonia 31 HP:0001290
24 small nail 31 HP:0001792
25 abnormal hair whorl 31 HP:0010721
26 clinodactyly 31 HP:0030084
27 patent foramen ovale 31 HP:0001655
28 delayed myelination 31 HP:0012448
29 right ventricular hypertrophy 31 HP:0001667
30 progressive microcephaly 31 HP:0000253
31 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
small for gestational age

Head And Neck Nose:
short nose
broad nose

Neurologic Central Nervous System:
myoclonus
cerebral atrophy
delayed myelination
thin corpus callosum
delayed psychomotor development, profound
more
Head And Neck Ears:
low-set ears
hearing loss

Skeletal Hands:
brachydactyly
clinodactyly
hypoplastic distal phalanges

Head And Neck Face:
sloping forehead
hypoplastic maxilla

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Head:
microcephaly, progressive (3 to 8 sd below the mean)

Skin Nails Hair Skin:
capillary malformations, small, multiple, diffuse

Head And Neck Eyes:
ptosis
hypertelorism
optic atrophy

Growth Height:
short stature

Head And Neck Mouth:
cleft palate

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale
right ventricular hypertrophy

Skeletal Feet:
brachydactyly
hypoplastic distal phalanges
abnormal toe positioning

Muscle Soft Tissue:
hypotonia

Genitourinary Bladder:
vesicoureteral reflux (1 patient)

Cardiovascular Vascular:
capillary malformations, small, multiple, diffuse

Skin Nails Hair Hair:
abnormal hair whorls

Clinical features from OMIM®:

614261 (Updated 05-Apr-2021)

UMLS symptoms related to Microcephaly-Capillary Malformation Syndrome:


myoclonus

Drugs & Therapeutics for Microcephaly-Capillary Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Capillary Malformation Syndrome

Genetic Tests for Microcephaly-Capillary Malformation Syndrome

Genetic tests related to Microcephaly-Capillary Malformation Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly-Capillary Malformation Syndrome 29 STAMBP

Anatomical Context for Microcephaly-Capillary Malformation Syndrome

MalaCards organs/tissues related to Microcephaly-Capillary Malformation Syndrome:

40
Brain, Skin

Publications for Microcephaly-Capillary Malformation Syndrome

Articles related to Microcephaly-Capillary Malformation Syndrome:

(show all 23)
# Title Authors PMID Year
1
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. 61 57 6 25
23542699 2013
2
The microcephaly-capillary malformation syndrome. 6 57 25 61
21815250 2011
3
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies. 25 57 6
21271646 2011
4
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome. 61 25 6
29907875 2018
5
Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome. 57 25
21548128 2011
6
Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy. 61 25
31638258 2019
7
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing. 25 61
27531570 2016
8
Novel STAMBP mutation and additional findings in an Arabic family. 25 61
25692795 2015
9
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
10
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 25
22228622 2012
11
Structural and thermodynamic comparison of the catalytic domain of AMSH and AMSH-LP: nearly identical fold but different stability. 25
21888914 2011
12
AMSH interacts with ESCRT-0 to regulate the stability and trafficking of CXCR4. 25
20159979 2010
13
A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. 25
16730941 2006
14
Activation of the endosome-associated ubiquitin isopeptidase AMSH by STAM, a component of the multivesicular body-sorting machinery. 25
16431367 2006
15
Possible involvement of a novel STAM-associated molecule "AMSH" in intracellular signal transduction mediated by cytokines. 25
10383417 1999
16
STAM-binding protein regulates melanoma metastasis through SLUG stabilization. 61
30454887 2018
17
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations. 61
27587990 2016
18
The microcephaly-capillary malformation syndrome in two brothers with novel clinical features. 61
25266620 2014
19
Insights into the mechanism of deubiquitination by JAMM deubiquitinases from cocrystal structures of the enzyme with the substrate and product. 61
24787148 2014
20
Microcephaly-Capillary Malformation Syndrome 61
24354023 2013
21
Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH. 61
24151880 2013
22
Recent advances in the genetic etiology of brain malformations. 61
23793931 2013
23
Microcephaly-capillary malformation syndrome: a story of rapid emergence of a new recognizable entity. 61
21834052 2011

Variations for Microcephaly-Capillary Malformation Syndrome

ClinVar genetic disease variations for Microcephaly-Capillary Malformation Syndrome:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAMBP NM_213622.4(STAMBP):c.532C>T (p.Arg178Ter) SNV Pathogenic 50792 rs397509388 GRCh37: 2:74074670-74074670
GRCh38: 2:73847543-73847543
2 STAMBP NM_213622.4(STAMBP):c.1270C>T (p.Arg424Ter) SNV Pathogenic 50795 rs397509390 GRCh37: 2:74089381-74089381
GRCh38: 2:73862254-73862254
3 STAMBP NM_213622.4(STAMBP):c.299T>A (p.Phe100Tyr) SNV Pathogenic 50796 rs397514697 GRCh37: 2:74072313-74072313
GRCh38: 2:73845186-73845186
4 STAMBP NM_213622.4(STAMBP):c.411del (p.Ile138fs) Deletion Pathogenic 50797 rs886037633 GRCh37: 2:74074548-74074548
GRCh38: 2:73847421-73847421
5 STAMBP NM_213622.4(STAMBP):c.279+5G>T SNV Pathogenic 50794 rs397509389 GRCh37: 2:74072020-74072020
GRCh38: 2:73844893-73844893
6 STAMBP NM_213622.4(STAMBP):c.649C>T (p.Gln217Ter) SNV Pathogenic 436881 rs1553382055 GRCh37: 2:74074787-74074787
GRCh38: 2:73847660-73847660
7 STAMBP NM_213622.4(STAMBP):c.707C>T (p.Ser236Phe) SNV Pathogenic 492960 rs766580482 GRCh37: 2:74074845-74074845
GRCh38: 2:73847718-73847718
8 STAMBP NM_213622.4(STAMBP):c.843_844del (p.Cys282fs) Deletion Pathogenic 1034283 GRCh37: 2:74076590-74076591
GRCh38: 2:73849463-73849464
9 STAMBP NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) SNV Pathogenic/Likely pathogenic 50793 rs143739249 GRCh37: 2:74058095-74058095
GRCh38: 2:73830968-73830968
10 STAMBP NM_213622.4(STAMBP):c.1119-6T>G SNV Likely pathogenic 212320 rs797046015 GRCh37: 2:74087173-74087173
GRCh38: 2:73860046-73860046
11 STAMBP NM_213622.4(STAMBP):c.125A>G (p.Glu42Gly) SNV Likely pathogenic 50791 rs397509387 GRCh37: 2:74058108-74058108
GRCh38: 2:73830981-73830981
12 STAMBP NM_213622.4(STAMBP):c.946G>A (p.Glu316Lys) SNV Uncertain significance 813809 GRCh37: 2:74077581-74077581
GRCh38: 2:73850454-73850454
13 STAMBP NM_213622.4(STAMBP):c.218A>G (p.Lys73Arg) SNV Uncertain significance 1034281 GRCh37: 2:74071954-74071954
GRCh38: 2:73844827-73844827
14 STAMBP NM_213622.4(STAMBP):c.475C>G (p.Gln159Glu) SNV Uncertain significance 1034282 GRCh37: 2:74074613-74074613
GRCh38: 2:73847486-73847486
15 STAMBP NM_213622.4(STAMBP):c.1230C>T (p.His410=) SNV Uncertain significance 160042 rs587784445 GRCh37: 2:74089341-74089341
GRCh38: 2:73862214-73862214
16 STAMBP NM_213622.4(STAMBP):c.1259_1261del (p.Ile420del) Deletion Uncertain significance 160043 rs587784446 GRCh37: 2:74089368-74089370
GRCh38: 2:73862241-73862243
17 STAMBP NM_213622.4(STAMBP):c.499G>A (p.Glu167Lys) SNV Uncertain significance 160045 rs140651555 GRCh37: 2:74074637-74074637
GRCh38: 2:73847510-73847510

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly-Capillary Malformation Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 STAMBP p.Arg14Pro VAR_069806
2 STAMBP p.Arg38Cys VAR_069807 rs143739249
3 STAMBP p.Glu42Gly VAR_069808 rs397509387
4 STAMBP p.Tyr63Cys VAR_069809 rs781694797
5 STAMBP p.Phe100Tyr VAR_069810 rs397514697
6 STAMBP p.Thr313Ile VAR_069811 rs202100019

Expression for Microcephaly-Capillary Malformation Syndrome

Search GEO for disease gene expression data for Microcephaly-Capillary Malformation Syndrome.

Pathways for Microcephaly-Capillary Malformation Syndrome

GO Terms for Microcephaly-Capillary Malformation Syndrome

Sources for Microcephaly-Capillary Malformation 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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