MCID: PRM056
MIFTS: 34

Primrose Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Primrose Syndrome

MalaCards integrated aliases for Primrose Syndrome:

Name: Primrose Syndrome 57 53 59 75 29 6 73
Ossified Ear Cartilages with Mental Deficiency, Muscle Wasting, and Bony Changes 57 53 75
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome 53 59
Prims 57 75
Syndrome, Primrose 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some features are variably present


HPO:

32
primrose syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Primrose Syndrome

NIH Rare Diseases : 53 Primrose syndrome was originally described in 1982 and fewer than a dozen cases have been reported in the literature. The most distinctive clinical feature is a calcification (hardening) of the outer ear. Other findings include characteristic facial features, a large head (macrocephaly), and intellectual disability. A variety of neurological signs such as brain calcifications, autism, and behavioral abnormalities have been reported in some cases. Additional features such as diabetes, sparse body hair, and muscle wasting become apparent in adulthood. Research has found that some cases of Primrose syndrome are caused by a mutation in the ZBTB20 gene . Most cases have been sporadic.

MalaCards based summary : Primrose Syndrome, also known as ossified ear cartilages with mental deficiency, muscle wasting, and bony changes, is related to chromosome 3q13.31 deletion syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Primrose Syndrome is ZBTB20 (Zinc Finger And BTB Domain Containing 20). Affiliated tissues include brain, bone and eye, and related phenotypes are pectus excavatum and hydrocephalus

OMIM : 57 Primrose syndrome consists of recognizable facial features, macrocephaly, mental retardation, enlarged and calcified external ears, sparse body hair, and distal muscle wasting (summary by Carvalho and Speck-Martins, 2011). Patients with a deletion syndrome involving 3q13.31 (615433) exhibit features overlapping those of Primrose syndrome. (259050)

UniProtKB/Swiss-Prot : 75 Primrose syndrome: A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting.

Wikipedia : 76 Primrose syndrome is a rare, slowly progressive genetic disorder that can vary symptomatically between... more...

Related Diseases for Primrose Syndrome

Diseases related to Primrose Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 3q13.31 deletion syndrome 11.1
2 alacrima, achalasia, and mental retardation syndrome 9.8
3 congenital hypothyroidism 9.8
4 hypothyroidism 9.8
5 testicular cancer 9.8
6 cerebritis 9.8
7 neonatal hypothyroidism 9.8

Graphical network of the top 20 diseases related to Primrose Syndrome:



Diseases related to Primrose Syndrome

Symptoms & Phenotypes for Primrose Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
brachycephaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
downward sloping ribs

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
deep-set eyes
posterior polar cataracts

Growth Height:
short stature

Skeletal Feet:
pes cavus
metatarsus varus
flexed toes

Head And Neck Mouth:
downturned corners of mouth
small mouth
prominent lower lip

Chest Breasts:
gynecomastia

Growth Weight:
truncal obesity
weight above the 90th percentile

Head And Neck Face:
midface hypoplasia
wide forehead
large jaw

Neurologic Behavioral Psychiatric Manifestations:
aggression (rare)
autism (in some patients)
self-injurious behavior (in some patients)
tics or anxieties (rare)
repetitive compulsive movements (rare)
more
Muscle Soft Tissue:
distal muscle wasting

Skin Nails Hair Nails:
dystrophic fingernails and toenails

Skeletal Skull:
macrocephaly
brachycephaly
basilar impression
maxillary hypoplasia

Skeletal Limbs:
genu valgum
flexion contractures (knees)
cystic bone lesions

Skeletal Spine:
kyphosis
posterior scalloping of vertebral bodies
endplate irregularities

Chest External Features:
narrow chest

Neurologic Central Nervous System:
neurodegeneration
hypotonia
mental retardation
hypoplastic corpus callosum
intracerebral calcifications (in some patients)

Skin Nails Hair Hair:
sparse scalp hair
absent facial, axillary, body hair

Skeletal Pelvis:
narrow iliac wings
flexion contractures (hips)

Skeletal:
generalized osteoporosis
joint contractures (fingers, hips, knees)

Head And Neck Ears:
hearing loss
large pinnae
ossification of pinnae
superiorly displaced ears

Skeletal Hands:
short terminal phalanges

GenitourinaryInternal GenitaliaMale:
cryptorchidism, bilateral (in some patients)

Endocrine Features:
abnormal glucose tolerance test
insulin-resistant diabetes mellitus in adulthood
congenital hypothyroidism (in some patients)
hypergonadotropic hypogonadism (rare)


Clinical features from OMIM:

259050

Human phenotypes related to Primrose Syndrome:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
6 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
7 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
8 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
9 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
10 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
13 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
14 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
15 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
16 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
17 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
18 anonychia 59 32 frequent (33%) Frequent (79-30%) HP:0001798
19 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
20 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
21 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
22 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
23 hip contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0003273
24 plagiocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0001357
25 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
26 narrow iliac wings 59 32 frequent (33%) Frequent (79-30%) HP:0002868
27 bilateral cryptorchidism 59 32 occasional (7.5%) Frequent (79-30%) HP:0008689
28 irregular vertebral endplates 59 32 hallmark (90%) Very frequent (99-80%) HP:0003301
29 calcification of the auricular cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0005103
30 posterior scalloping of vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0005121
31 macrocephaly 32 HP:0000256
32 malar flattening 32 HP:0000272
33 genu valgum 32 HP:0002857
34 ptosis 32 HP:0000508
35 cerebral calcification 32 occasional (7.5%) HP:0002514
36 self-injurious behavior 32 occasional (7.5%) HP:0100716
37 hearing impairment 32 HP:0000365
38 flexion contracture 59 Very frequent (99-80%)
39 osteoporosis 32 HP:0000939
40 brachycephaly 32 HP:0000248
41 thick lower lip vermilion 32 HP:0000179
42 abnormal form of the vertebral bodies 59 Very frequent (99-80%)
43 autism 32 occasional (7.5%) HP:0000717
44 metatarsus adductus 32 HP:0001840
45 pes cavus 32 HP:0001761
46 broad forehead 32 HP:0000337
47 deeply set eye 32 HP:0000490
48 hypergonadotropic hypogonadism 32 occasional (7.5%) HP:0000815
49 hypoplasia of the maxilla 32 HP:0000327
50 neurodegeneration 32 HP:0002180

Drugs & Therapeutics for Primrose Syndrome

Search Clinical Trials , NIH Clinical Center for Primrose Syndrome

Genetic Tests for Primrose Syndrome

Genetic tests related to Primrose Syndrome:

# Genetic test Affiliating Genes
1 Primrose Syndrome 29 ZBTB20

Anatomical Context for Primrose Syndrome

MalaCards organs/tissues related to Primrose Syndrome:

41
Brain, Bone, Eye, Testes

Publications for Primrose Syndrome

Articles related to Primrose Syndrome:

# Title Authors Year
1
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies. ( 29681083 )
2018
2
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. ( 29737001 )
2018
3
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. ( 28462983 )
2017
4
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. ( 27061120 )
2016
5
Mutations in ZBTB20 cause Primrose syndrome. ( 25017102 )
2014
6
Additional features of unique Primrose syndrome phenotype. ( 21567911 )
2011
7
New case of Primrose syndrome with mild intellectual disability. ( 21910247 )
2011
8
Motor tics, stereotypies, and self-flagellation in primrose syndrome. ( 20644156 )
2010
9
Testicular cancer in a patient with Primrose syndrome. ( 16530709 )
2006
10
The Primrose syndrome with progressive neurological involvement and cerebral calcification. ( 12532939 )
2002

Variations for Primrose Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Primrose Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 ZBTB20 p.Lys590Gln VAR_072583 rs483353064
2 ZBTB20 p.His596Arg VAR_072584 rs483353066
3 ZBTB20 p.Gly602Ala VAR_072585 rs483353068
4 ZBTB20 p.Leu621Phe VAR_072586 rs483353070

ClinVar genetic disease variations for Primrose Syndrome:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB20 NM_001164342.2(ZBTB20): c.1768A> C (p.Lys590Gln) single nucleotide variant Pathogenic rs483353064 GRCh37 Chromosome 3, 114069157: 114069157
2 ZBTB20 NM_001164342.2(ZBTB20): c.1768A> C (p.Lys590Gln) single nucleotide variant Pathogenic rs483353064 GRCh38 Chromosome 3, 114350310: 114350310
3 ZBTB20 NM_001164342.2(ZBTB20): c.1771C> G (p.Gln591Glu) single nucleotide variant Pathogenic rs483353065 GRCh37 Chromosome 3, 114069154: 114069154
4 ZBTB20 NM_001164342.2(ZBTB20): c.1771C> G (p.Gln591Glu) single nucleotide variant Pathogenic rs483353065 GRCh38 Chromosome 3, 114350307: 114350307
5 ZBTB20 NM_001164342.2(ZBTB20): c.1787A> G (p.His596Arg) single nucleotide variant Pathogenic rs483353066 GRCh37 Chromosome 3, 114069138: 114069138
6 ZBTB20 NM_001164342.2(ZBTB20): c.1787A> G (p.His596Arg) single nucleotide variant Pathogenic rs483353066 GRCh38 Chromosome 3, 114350291: 114350291
7 ZBTB20 NM_001164342.2(ZBTB20): c.1802C> T (p.Thr601Ile) single nucleotide variant Pathogenic rs483353067 GRCh37 Chromosome 3, 114069123: 114069123
8 ZBTB20 NM_001164342.2(ZBTB20): c.1802C> T (p.Thr601Ile) single nucleotide variant Pathogenic rs483353067 GRCh38 Chromosome 3, 114350276: 114350276
9 ZBTB20 NM_001164342.2(ZBTB20): c.1805G> C (p.Gly602Ala) single nucleotide variant Pathogenic rs483353068 GRCh37 Chromosome 3, 114058273: 114058273
10 ZBTB20 NM_001164342.2(ZBTB20): c.1805G> C (p.Gly602Ala) single nucleotide variant Pathogenic rs483353068 GRCh38 Chromosome 3, 114339426: 114339426
11 ZBTB20 NM_001164342.2(ZBTB20): c.1811A> C (p.Lys604Thr) single nucleotide variant Likely pathogenic rs483353069 GRCh37 Chromosome 3, 114058267: 114058267
12 ZBTB20 NM_001164342.2(ZBTB20): c.1811A> C (p.Lys604Thr) single nucleotide variant Likely pathogenic rs483353069 GRCh38 Chromosome 3, 114339420: 114339420
13 ZBTB20 NM_001164342.2(ZBTB20): c.1861C> T (p.Leu621Phe) single nucleotide variant Pathogenic rs483353070 GRCh37 Chromosome 3, 114058217: 114058217
14 ZBTB20 NM_001164342.2(ZBTB20): c.1861C> T (p.Leu621Phe) single nucleotide variant Pathogenic rs483353070 GRCh38 Chromosome 3, 114339370: 114339370
15 ZBTB20 NM_001164342.2(ZBTB20): c.1876G> A (p.Val626Met) single nucleotide variant Pathogenic rs483353063 GRCh37 Chromosome 3, 114058202: 114058202
16 ZBTB20 NM_001164342.2(ZBTB20): c.1876G> A (p.Val626Met) single nucleotide variant Pathogenic rs483353063 GRCh38 Chromosome 3, 114339355: 114339355
17 ZBTB20 NM_001164342.2(ZBTB20): c.2221G> A (p.Gly741Arg) single nucleotide variant no interpretation for the single variant rs150263896 GRCh37 Chromosome 3, 114057857: 114057857
18 ZBTB20 NM_001164342.2(ZBTB20): c.2221G> A (p.Gly741Arg) single nucleotide variant no interpretation for the single variant rs150263896 GRCh38 Chromosome 3, 114339010: 114339010
19 ZBTB20 NM_001164342.2(ZBTB20): c.1847C> T (p.Ser616Phe) single nucleotide variant no interpretation for the single variant rs879255635 GRCh37 Chromosome 3, 114058231: 114058231
20 ZBTB20 NM_001164342.2(ZBTB20): c.1847C> T (p.Ser616Phe) single nucleotide variant no interpretation for the single variant rs879255635 GRCh38 Chromosome 3, 114339384: 114339384
21 ZBTB20 NM_001164342.2(ZBTB20): c.1786C> T (p.His596Tyr) single nucleotide variant Pathogenic rs1057519435 GRCh38 Chromosome 3, 114350292: 114350292
22 ZBTB20 NM_001164342.2(ZBTB20): c.1786C> T (p.His596Tyr) single nucleotide variant Pathogenic rs1057519435 GRCh37 Chromosome 3, 114069139: 114069139

Expression for Primrose Syndrome

Search GEO for disease gene expression data for Primrose Syndrome.

Pathways for Primrose Syndrome

GO Terms for Primrose Syndrome

Sources for Primrose Syndrome

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