Lenz-Majewski Hyperostotic Dwarfism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lenz-Majewski Hyperostotic Dwarfism

MalaCards integrated aliases for Lenz-Majewski Hyperostotic Dwarfism:

Name: Lenz-Majewski Hyperostotic Dwarfism ⁵⁷ ¹¹ ⁵⁸ ⁷⁵ ⁷³ ¹⁴ ³⁸

Lenz-Majewski Syndrome ⁵⁷ ¹¹ ¹⁹ ⁷³ ⁵ ⁷⁵

Lenz Majewski Hyperostotic Dwarfism ¹⁹ ⁴³ ⁷¹

Lmhd ⁵⁷ ⁷³

Multiple Congenital Anomalies, Intellectual Disability and Progressive Skeletal Sclerosis ¹⁹

Hyperostotic Dwarfism Lenz-Majewski Type ¹⁹

Lenz-Majewski Hyperostotic Dysplasia ¹⁹

Lms ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁸ ⁵⁷

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
all cases due to de novo mutation (last curated february 2014)

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0111507

OMIM® ⁵⁷ 151050

MeSH ⁴³ C537115 D004392 D008607 more

SNOMED-CT ⁶⁸ 1393001

MESH via Orphanet ⁴⁴ C537115

ICD10 via Orphanet ³² Q87.1

UMLS via Orphanet ⁷² C0432269

Orphanet ⁵⁸ ORPHA2658

MedGen ⁴⁰ C0432269

UMLS ⁷¹ C0432269

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Summaries for Lenz-Majewski Hyperostotic Dwarfism

OMIM®: ⁵⁷ Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014). (151050) (Updated 08-Dec-2022)

MalaCards based summary: Lenz-Majewski Hyperostotic Dwarfism, also known as lenz-majewski syndrome, is related to scarf syndrome and limb-mammary syndrome. An important gene associated with Lenz-Majewski Hyperostotic Dwarfism is PTDSS1 (Phosphatidylserine Synthase 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include bone, skin and tongue, and related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot: ⁷³ A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. LMHD is characterized by the combination of sclerosing bone dysplasia, intellectual disability and distinct craniofacial, dental, cutaneous and distal limb anomalies. The progressive generalized hyperostosis associated with this syndrome affects the cranium, the vertebrae and the diaphyses of tubular bones, leading to severe growth restriction.

Disease Ontology: ¹¹ A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has material basis in heterozygous mutation in PTDSS1 on chromosome 8q22.1.

GARD: ¹⁹ An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

Orphanet: ⁵⁸ An extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

Wikipedia: ⁷⁵ Lenz-Majewski syndrome (LMS), also known as Lenz-Majewski hyperostotic dwarfism (LMHD), is a skin... more...

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Related Diseases for Lenz-Majewski Hyperostotic Dwarfism

Diseases related to Lenz-Majewski Hyperostotic Dwarfism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 99)

#	Related Disease	Score	Top Affiliating Genes
1	scarf syndrome	11.5
2	limb-mammary syndrome	11.5
3	lateral meningocele syndrome	11.3
4	laurence-moon syndrome	11.0
5	short-rib thoracic dysplasia 6 with or without polydactyly	10.6
6	short-rib thoracic dysplasia 3 with or without polydactyly	10.6
7	bone disease	10.5
8	dysostosis	10.5
9	leiomyosarcoma	10.4
10	endosteal hyperostosis, autosomal dominant	10.4
11	hypertelorism	10.4
12	chromosome 2q35 duplication syndrome	10.4
13	peeling skin syndrome 1	10.4
14	brachydactyly	10.4
15	proximal symphalangism	10.4
16	hyperostosis	10.4
17	osteochondrodysplasia	10.4
18	cutis laxa	10.4
19	hydrocephalus	10.3
20	lacrimal duct defect	10.1
21	cryptorchidism, unilateral or bilateral	10.1
22	papillon-lefevre syndrome	10.1
23	calvarial hyperostosis	10.1
24	choanal atresia, posterior	10.1
25	scoliosis	10.1
26	inguinal hernia	10.1
27	bell's palsy	10.1
28	facial paralysis	10.1
29	communicating hydrocephalus	10.1
30	spinal cord disease	10.1
31	atp6v0a2-related cutis laxa	10.1
32	eln-related cutis laxa	10.1
33	ltbp4-related cutis laxa	10.1
34	primary bone dysplasia with increased bone density	10.1
35	body mass index quantitative trait locus 1	10.1
36	neuronopathy, distal hereditary motor, type viia	10.1	PTDSS2 PISD
37	uterus leiomyosarcoma	10.1
38	calvarial doughnut lesions with bone fragility	10.1	SGMS2 PTDSS1 PCYT1A
39	split-hand/foot malformation 1	10.0
40	deficiency anemia	10.0
41	split hand-foot malformation	10.0
42	sarcoma	10.0
43	neutropenia	10.0
44	leiomyoma	10.0
45	toxoplasmosis	10.0
46	isolated split hand-split foot malformation	10.0
47	polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	9.9	PTDSS1 DDHD1
48	spastic paraplegia 28, autosomal recessive	9.9	DDHD2 DDHD1
49	spastic paraplegia 82, autosomal recessive	9.9	DDHD2 DDHD1
50	spastic paraplegia 77, autosomal recessive	9.8	DDHD2 DDHD1

Graphical network of the top 20 diseases related to Lenz-Majewski Hyperostotic Dwarfism:

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Symptoms & Phenotypes for Lenz-Majewski Hyperostotic Dwarfism

Human phenotypes related to Lenz-Majewski Hyperostotic Dwarfism:

⁵⁸ ³⁰ (show top 50) (show all 96)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000256
2	intellectual disability ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001249
3	global developmental delay ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001263
4	delayed skeletal maturation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002750
5	hypertelorism ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000316
6	macrotia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000400
7	mandibular prognathia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000303
8	thickened calvaria ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002684
9	abnormal cortical bone morphology ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003103
10	specific learning disability ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001328
11	prematurely aged appearance ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007495
12	aplasia/hypoplasia of the skin ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008065
13	brachydactyly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001156
14	choanal atresia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000453
15	joint hyperflexibility ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0005692
16	broad forehead ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000337
17	redundant skin ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001582
18	large fontanelles ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000239
19	finger syndactyly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0006101
20	symphalangism affecting the phalanges of the hand ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0009773
21	delayed cranial suture closure ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000270
22	short palm ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004279
23	severe short stature ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0003510
24	osteopetrosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011002
25	facial hyperostosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0005465
26	aplastic clavicle ³⁰	Hallmark (90%)		HP:0006660
27	abnormal dental enamel morphology ³⁰	Hallmark (90%)		HP:0000682
28	abnormal metaphysis morphology ³⁰	Hallmark (90%)		HP:0000944
29	facial palsy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010628
30	inguinal hernia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000023
31	thick vermilion border ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012471
32	cryptorchidism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000028
33	hypospadias ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000047
34	wide mouth ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000154
35	epispadias ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000039
36	elbow ankylosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003070
37	abnormal nasolacrimal system morphology ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000614
38	femoral hernia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100541
39	abnormal metacarpal morphology ³⁰	Frequent (33%)		HP:0005916
40	agenesis of corpus callosum ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001274
41	scoliosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002650
42	kyphosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002808
43	hydrocephalus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000238
44	hypotonia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001252
45	high, narrow palate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002705
46	hyperconvex fingernails ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001812
47	absent septum pellucidum ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001331
48	hypoplastic fingernail ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001804
49	bifid uvula ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000193
50	submucous cleft hard palate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000176

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
chordee

Chest Ribs Sternum Clavicles And Scapulae:
broad ribs
broad clavicles

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
choanal atresia
choanal stenosis

Skin Nails Hair Skin:
cutis marmorata
prominent scalp veins
cutis laxa (infancy)
thin, hypotrophic skin

Skeletal Skull:
progressive sclerosis of skull base
shallow, distorted orbits
progressive sclerosis of facial bones

Head And Neck Head:
delayed closure of fontanel
disproportionately large head
large fontanels
microcephaly (in some patients)

Growth Height:
postnatal short stature

Head And Neck Mouth:
small tongue

Skin Nails Hair Hair:
sparse hair (infancy)

Neurologic Central Nervous System:
hypotonia
agenesis of the corpus callosum
mental retardation, moderate to severe

Head And Neck Eyes:
hypertelorism
nasolacrimal duct stenosis

Skeletal Limbs:
diaphyseal thickening
knee flexion contracture
elbow flexion contractures
metaphyseal hypostosis
long, flared metaphyses
more

Head And Neck Face:
micrognathia
broad, prominent forehead

Abdomen Gastrointestinal:
anteriorly placed anus

Skeletal Hands:
proximal symphalangism
syndactyly
dorsiflexion of fingers
short/absent middle phalanges
hyperextensible digits

Skeletal:
delayed bone age

Head And Neck Ears:
hearing loss, sensorineural
large, floppy ears

Growth Weight:
severe emaciation

Head And Neck Teeth:
dysplastic enamel

Clinical features from OMIM®:

151050 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Lenz-Majewski Hyperostotic Dwarfism

Search Clinical Trials, NIH Clinical Center for Lenz-Majewski Hyperostotic Dwarfism

Cochrane evidence based reviews: lenz majewski hyperostotic dwarfism

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Genetic Tests for Lenz-Majewski Hyperostotic Dwarfism

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Anatomical Context for Lenz-Majewski Hyperostotic Dwarfism

Organs/tissues related to Lenz-Majewski Hyperostotic Dwarfism:

MalaCards : Bone, Skin, Tongue

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Publications for Lenz-Majewski Hyperostotic Dwarfism

Articles related to Lenz-Majewski Hyperostotic Dwarfism:

(show all 27)

#	Title	Authors	PMID	Year
1	Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ⁶² ⁵⁷ ⁵	Sousa SB...Moore GE	24241535	2014
2	Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. ⁶² ⁵⁷ ⁵	Wattanasirichaigoon D...Chunharas A	15194948	2004
3	Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism. ⁶² ⁵⁷ ⁵	Saraiva JM	10756342	2000
4	Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome. ⁶² ⁵⁷ ⁵	Chrzanowska KH...Wisniewski L	2773987	1989
5	A Japanese patient with a mild Lenz-Majewski syndrome. ⁶² ⁵⁷	Dateki S...Moriuchi H	17593321	2007
6	Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient. ⁶² ⁵⁷	Majewski F	10946362	2000
7	Lenz-Majewski syndrome. ⁶² ⁵⁷	Gorlin RJ...Whitley CB	6611917	1983
8	The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. ⁶² ⁵⁷	Robinow M...Smith TH	894410	1977
9	Craniodiaphyseal dysplasia, a disease or group of diseases? ⁵⁷	Macpherson RI	4823202	1974
10	Cutis laxa, skeletal anomalies, and ambiguous genitalia. ⁵⁷	Kaye CI...Esterly NB	4809786	1974
11	Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. ⁵⁷	Braham RL	5249155	1969
12	Selection of fertilization strategies for different sperm parameters in vitro fertilization. ⁶²	Qiu L...Wang Z	36267712	2022
13	De novo loss-of-function variant in PTDSS1 is associated with developmental delay. ⁶²	Gracie S...Larson A	35224839	2022
14	Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane. ⁶²	Miyata N...Kuge O	34516042	2021
15	Lenz-Majewski syndrome in a patient from Egypt. ⁶²	Afifi HH...Abdel-Salam GMH	31403251	2019
16	Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. ⁶²	Seda M...Jenkins D	31231513	2019
17	Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features. ⁶²	Murtaza G...Ahmed A	29885186	2018
18	Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. ⁶²	Piard J...Van Maldergem L	29341480	2018
19	Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. ⁶²	Sohn M...Balla T	27044099	2016
20	Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism. ⁶²	Sohn M...Balla T	30854527	2016
21	Craniovertebral junction stenosis in Lenz-Majewski syndrome. ⁶²	Mizuguchi K...Ishigro A	25779830	2015
22	Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. ⁶²	Tamhankar PM...Das DK	26117586	2015
23	Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1. ⁶²	Whyte MP...Mumm S	25363158	2015
24	Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. ⁶²	Wortmann SB...Wevers RA	25178427	2015
25	Duck hepatitis B virus DNA integration induced by oxidative radicals and its transmission from parent cells to offspring ones. ⁶²	Zhang L...Rogler CE	11058956	2000
26	Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. ⁶²	Nishimura G...Kuwashima S	9215775	1997
27	Surgical treatment of biliary ductal stricture complicating localized left hepatolithiasis. ⁶²	Sun WB...He ZP	27006579	1997

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Genes for Lenz-Majewski Hyperostotic Dwarfism

Genes related to Lenz-Majewski Hyperostotic Dwarfism (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PTDSS1	Phosphatidylserine Synthase 1	Protein Coding	1602.62	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	2773987 10756342 15194948 (more) 24241535
2	PTDSS2	Phosphatidylserine Synthase 2	Protein Coding	7.16	DISEASES inferred ¹⁴
3	OSBPL8	Oxysterol Binding Protein Like 8	Protein Coding	6.44	DISEASES inferred ¹⁴
4	SACM1L	SAC1 Like Phosphatidylinositide Phosphatase	Protein Coding	6.32	DISEASES inferred ¹⁴
5	PCYT1A	Phosphate Cytidylyltransferase 1A, Choline	Protein Coding	6.24	DISEASES inferred ¹⁴
6	OSBPL5	Oxysterol Binding Protein Like 5	Protein Coding	6.2	DISEASES inferred ¹⁴
7	CHKB	Choline Kinase Beta	Protein Coding	5.76	DISEASES inferred ¹⁴
8	SGMS2	Sphingomyelin Synthase 2	Protein Coding	5.53	DISEASES inferred ¹⁴
9	PI4K2A	Phosphatidylinositol 4-Kinase Type 2 Alpha	Protein Coding	5.46	DISEASES inferred ¹⁴
10	ZNF326	Zinc Finger Protein 326	Protein Coding	5.39	DISEASES inferred ¹⁴
11	XKR9	XK Related 9	Protein Coding	5.38	DISEASES inferred ¹⁴
12	PISD	Phosphatidylserine Decarboxylase	Protein Coding	5.33	DISEASES inferred ¹⁴
13	OSBPL9	Oxysterol Binding Protein Like 9	Protein Coding	5.3	DISEASES inferred ¹⁴
14	DDHD1	DDHD Domain Containing 1	Protein Coding	5.28	DISEASES inferred ¹⁴
15	PI4KA	Phosphatidylinositol 4-Kinase Alpha	Protein Coding	5.23	DISEASES inferred ¹⁴
16	DDHD2	DDHD Domain Containing 2	Protein Coding	5.22	DISEASES inferred ¹⁴

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Variations for Lenz-Majewski Hyperostotic Dwarfism

ClinVar genetic disease variations for Lenz-Majewski Hyperostotic Dwarfism:

⁵ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PTDSS1	NM_014754.3(PTDSS1):c.794T>C (p.Leu265Pro)	SNV	Pathogenic	97036	rs587777090	GRCh37: 8:97316309-97316309 GRCh38: 8:96304081-96304081
2	PTDSS1	NM_014754.3(PTDSS1):c.805C>T (p.Pro269Ser)	SNV	Pathogenic	97035	rs587777089	GRCh37: 8:97316320-97316320 GRCh38: 8:96304092-96304092
3	PTDSS1	NM_014754.3(PTDSS1):c.1058A>G (p.Gln353Arg)	SNV	Pathogenic	97034	rs587777088	GRCh37: 8:97321835-97321835 GRCh38: 8:96309607-96309607
4	PTDSS1	NM_014754.3(PTDSS1):c.848C>T (p.Ser283Phe)	SNV	Likely Pathogenic	1027889	rs1811091915	GRCh37: 8:97316363-97316363 GRCh38: 8:96304135-96304135
5	PTDSS1	NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu)	SNV	Uncertain Significance	802426	rs1586200389	GRCh37: 8:97318730-97318730 GRCh38: 8:96306502-96306502
6	PTDSS1	NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu)	SNV	Uncertain Significance	930583	rs1810593860	GRCh37: 8:97285594-97285594 GRCh38: 8:96273366-96273366
7	PTDSS1	NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln)	SNV	Uncertain Significance	429519	rs1131691429	GRCh37: 8:97296349-97296349 GRCh38: 8:96284121-96284121
8	PTDSS1	NM_014754.3(PTDSS1):c.932T>G (p.Phe311Cys)	SNV	Uncertain Significance	800750	rs1586200380	GRCh37: 8:97318709-97318709 GRCh38: 8:96306481-96306481
9	PTDSS1	NM_014754.3(PTDSS1):c.1242+27A>G	SNV	Benign	1279187		GRCh37: 8:97342536-97342536 GRCh38: 8:96330308-96330308
10	PTDSS1	NM_014754.3(PTDSS1):c.1312+12_1312+17del	MICROSAT	Benign	1273820		GRCh37: 8:97343327-97343332 GRCh38: 8:96331099-96331104
11	PTDSS1	NM_014754.3(PTDSS1):c.1073+48T>A	SNV	Benign	1278468		GRCh37: 8:97321898-97321898 GRCh38: 8:96309670-96309670

UniProtKB/Swiss-Prot genetic disease variations for Lenz-Majewski Hyperostotic Dwarfism:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PTDSS1	p.Leu265Pro	VAR_070987	rs587777090
2	PTDSS1	p.Pro269Ser	VAR_070988	rs587777089
3	PTDSS1	p.Gln353Arg	VAR_070989	rs587777088

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Expression for Lenz-Majewski Hyperostotic Dwarfism

Search GEO for disease gene expression data for Lenz-Majewski Hyperostotic Dwarfism.

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Pathways for Lenz-Majewski Hyperostotic Dwarfism

Pathways related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.26	CHKB DDHD1 DDHD2 OSBPL5 OSBPL8 OSBPL9
2	Glycerophospholipid biosynthesis ⁶⁶ Show member pathways Acyl chain remodeling of CL ⁶⁶ Acyl chain remodeling of DAG and TAG ⁶⁶ Acyl chain remodelling of PG ⁶⁶ Acyl chain remodelling of PI ⁶⁶ CDP-diacylglycerol biosynthesis ⁶¹ CDP-diacylglycerol biosynthesis I ⁶¹ glycerol-3-phosphate shuttle ⁶¹ Hydrolysis of LPC ⁶⁶ Hydrolysis of LPE ⁶⁶ Kennedy pathway from sphingolipids ⁷⁴ phosphatidylcholine biosynthesis ⁶¹ phosphatidylcholine biosynthesis I ⁶¹ phosphatidylinositol biosynthesis II (eukaryotes) ⁶¹ phosphatidylserine biosynthesis I ⁶¹ Phospholipid metabolism ⁶⁶ Synthesis of PA ⁶⁶ Synthesis of PE ⁶⁶ Synthesis of PG ⁶⁶ Synthesis of PI ⁶⁶ Synthesis of PS ⁶⁶	12.12	SACM1L PTDSS2 PTDSS1 PISD PI4KA PI4K2A
3	PI Metabolism ⁶⁶ Show member pathways Glycerophospholipid catabolism ⁶⁶ Phosphoinositides metabolism ⁷⁴ PI and PC transport between ER and Golgi membranes ⁶⁶ Synthesis of PIPs at the early endosome membrane ⁶⁶ Synthesis of PIPs at the ER membrane ⁶⁶ Synthesis of PIPs at the Golgi membrane ⁶⁶ Synthesis of PIPs at the late endosome membrane ⁶⁶ Synthesis of PIPs at the plasma membrane ⁶⁶	12	SACM1L PI4KA PI4K2A
4	Glycerophospholipid biosynthetic pathway ⁷⁴ Show member pathways cardiolipin biosynthesis ⁶¹ cardiolipin biosynthesis II ⁶¹ Synthesis of CL ⁶⁶	11.04	PTDSS1 PI4K2A CHKB
5	Glycerolipids and glycerophospholipids ⁷⁴	10.88	PTDSS2 PTDSS1 PISD PCYT1A CHKB
6	Synthesis of PC ⁶⁶	10.85	PCYT1A CHKB
7	3-phosphoinositide biosynthesis ⁶¹	10.83	SACM1L PI4KA PI4K2A
8	D-myo-inositol (1,4,5)-trisphosphate biosynthesis ⁶¹	10.48	PI4KA PI4K2A

Sources

GO Terms for Lenz-Majewski Hyperostotic Dwarfism

Cellular components related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum membrane	GO:0005789	9.77	SGMS2 SACM1L PTDSS2 PTDSS1 PCYT1A OSBPL8
2	endoplasmic reticulum-plasma membrane contact site	GO:0140268	8.92	SACM1L OSBPL5

Biological processes related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylcholine biosynthetic process	GO:0006656	9.8	PCYT1A CHKB
2	positive regulation of mitochondrial fission	GO:0090141	9.76	DDHD2 DDHD1
3	sterol transport	GO:0015918	9.73	OSBPL9 OSBPL8
4	phosphatidylinositol biosynthetic process	GO:0006661	9.73	SACM1L PI4KA PI4K2A
5	phosphatidylethanolamine biosynthetic process	GO:0006646	9.71	PISD CHKB
6	phosphatidylserine acyl-chain remodeling	GO:0036150	9.67	OSBPL8 OSBPL5
7	lipid transport	GO:0006869	9.65	OSBPL9 OSBPL8 OSBPL5
8	CDP-choline pathway	GO:0006657	9.62	CHKB PCYT1A
9	phosphatidylserine biosynthetic process	GO:0006659	9.46	PTDSS2 PTDSS1
10	lipid metabolic process	GO:0006629	9.36	SGMS2 SACM1L PTDSS2 PTDSS1 PISD PI4KA
11	phospholipid biosynthetic process	GO:0008654	9.35	PTDSS2 PTDSS1 PISD PCYT1A CHKB

Molecular functions related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	10.02	SGMS2 PTDSS2 PTDSS1 PI4KA PI4K2A PCYT1A
2	phospholipase activity	GO:0004620	9.76	DDHD2 DDHD1
3	lipid binding	GO:0008289	9.73	PCYT1A OSBPL9 OSBPL8 OSBPL5
4	phospholipid transporter activity	GO:0005548	9.71	OSBPL8 OSBPL5
5	1-phosphatidylinositol 4-kinase activity	GO:0004430	9.62	PI4K2A PI4KA
6	phosphatidylserine transfer activity	GO:0140343	9.56	OSBPL8 OSBPL5
7	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	GO:0106245	9.46	PTDSS2 PTDSS1
8	sterol binding	GO:0032934	9.43	OSBPL9 OSBPL8 OSBPL5
9	sterol transporter activity	GO:0015248	9.1	OSBPL9 OSBPL8 OSBPL5

Sources

Sources for Lenz-Majewski Hyperostotic Dwarfism

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

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¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LMHD MCID: LNZ003 MIFTS: 47	Lenz-Majewski Hyperostotic Dwarfism (LMHD) Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Lenz-Majewski Hyperostotic Dwarfism (LMHD)

Aliases & Classifications for Lenz-Majewski Hyperostotic Dwarfism

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Expression for Lenz-Majewski Hyperostotic Dwarfism

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Pathways related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

GO Terms for Lenz-Majewski Hyperostotic Dwarfism

Cellular components related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

Biological processes related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

Molecular functions related to Lenz-Majewski Hyperostotic Dwarfism according to GeneCards Suite gene sharing:

Sources for Lenz-Majewski Hyperostotic Dwarfism