Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

Tabella A.6. Thesaurus delle malattie rare utilizzato al fine delle analisi

(sinonimi in corsivo)

0 variant GM2 gangliosidosis Common mesentery Glycogen debranching deficiency

Microcephaly with spastic

quadriplegia Retinal blindness congenital

1 alpha pyrroline-5-carboxylate Common variable

Glycogen storage disease due to Recessive microcephaly with

dehydrogenase deficiency

hypogammaglobulinemia LAMP-2 deficiency

Lysosomal glycogen storage

spastic quadriplegia LCA

Immunoglobulin deficiency disease with normal acid maltase Microcephaly-oculo-digito-

Type 2 hyperprolinemia



esophageal-duodenal syndrome type 1 Leber congenital amaurosis

late-onset Immunoglobulin Glycogen storage disease due to

Hyperprolinemia type 2


Common variable

liver phosphorylase deficiency ODED syndrome Leber congenital amaurosis type 1

1 Familial erythrocytosis

immunodeficiency Glycogen storage disease type 6B Feingold syndrome congenital Retinal blindness

Polycythemia primary familial and acquired


Hypogammaglobulinemia Glycogen storage disease type 1B Brunner Winter syndrome type 1 Amaurosis congenita of Leber



Erythrocytosis familial 1

acquired Glycogen storage disease type 1C syndrome Retinal cavernous hemangioma


commonly currettage A

Glycogen storage disease type 1D MMT syndrome Retinal degeneration

syndrome of intrauterine

Digital anomalies with short

primary familial and congenital adhesions and synechiae

palpebral fissures and atresia of


resulting from trauma

A syndrome of intrauterine

Glycogen storage disease type 6A esophagus or duodenum + rd

adhesions and synechiae

or duodenum Digital anomalies

resulting from trauma

Glycogen storage disease due to with short palpebral fissures and

1 Erythrocytosis familial

Erythrocytosis autosomal dominant

commonly currettage

phosphorylase kinase deficiency atresia of esophagus Retinal dysplasia x linked

benign Intrauterine synechiae Glycogen storage disease type 7

Muscle phosphofructokinase

Microcoria Retinal dysplasia X-linked

1 HPT Uterine synechiae

deficiency Miosis

microcornea and sclerocornea with

short stature and hair and dental

retinal dysplasia)

parathyroid extract Asherman syndrome GSD 7

abnormalities Microphthalmos

Microphthalmos microcornea and


Complement component 2

sclerocornea with short stature



Complement component 5

Glycogen storage disease type XI and hair and dental abnormalities Retinal pigment epithelial dystrophy


deficiency Fanconi-Bickel disease Rodrigues blindness

Microcornea corectopia macular

Foveal dystrophy

1 LEOPARD syndrome C5 deficiency Bickel-Fanconi glycogenosis hypoplasia Macular dystrophy

Retinal pigmentary degeneration

Glycogen synthetase in the liver Microcornea glaucoma absent microcephaly and severe mental

Cardiomyopathic lentiginosis Leiner disease


frontal sinuses


Dysfunction of the fifth

microcephaly and severe mental

component of complement

retardation Retinal pigmentary

Multiple lentigines syndrome (C5) Glycogen storage Microdeletion 17p12


Complement component

Retinopathy pigmentary mental

1 Rippling muscle disease

deficiency Glycogenosis Fanconi type Microdeletion 22 q11


Complement component Hepatic glycogenosis with amino microdeletion 22 q11 Chromosome Mirhosseini-Holmes-Walton

1/78 A

receptor 1

aciduria and glucosuria



Complement receptor

Retinal telangiectasia associated

Louis-Bar syndrome

deficiency FBS Microdeletion 22q11

with hypogammaglobulinemia

10.5 A Complete absence of breasts Pseudo-phlorizin diabetes Shprintzen syndorme Frenkel Russe syndrome

Conotruncal anomalies face Retinal telangiectasia

36 A Absent breasts and nipples + FBS

Hepatic glycogenosis with fanconi



1/62 A Athelia


Fanconi syndrome with intestinal

Monosomy 22q11 Retinal telangiectasis

Complete agenesis of the malabsorption and galactose


dorsal pancreas

intolerance Microdontia Coats disease

retinal with cerebral leukodystrophy

16p13.3 deletion syndrome Pancreas dorsal agenesis of Fanconi type Glycogenosis Primordial short stature


17 alpha ketosteroid reductase

Cerebroretinal vasculopathy

deficiency of testis dorsal agenesis of Pancreas Glycogen storage disease XI opalescent and rootless teeth hereditary

vascular with cerebral and renal

Agenesis of the dorsal Hepatorenal glycogenosis with renal microdontia and dens invaginatus involvement and Raynaud and

17 alpha KSR deficiency


Fanconi syndrome


migraine phenomena Retinopathy

Retinopathy vascular with cerebral

17 Beta-hydroxysteroid

Microdontia hypodontia short and renal involvement and Raynaud

dehydrogenase deficiency dorsal Pancreas agenesis Fanconi Bickel syndrome


and migraine phenomena

Neutral 17 beta-hydroxysteroid Complex 1 mitochondrial

hereditary Cerebroretinal

oxidoreductase deficiency

respiratory chain deficiency Glycogenosis type 2 Microencephaly


Male pseudohermaphroditism with Complex 2 mitochondrial

Retinis pigmentosa deafness


respiratory chain deficiency

Complex 3 mitochondrial

Glycogenosis type 3 Microgastria


17 ketoreductase deficiency respiratory chain deficiency Glycogenosis type 4 Microgastria limb reduction defect retinitis pigmentosa


Complex 4 mitochondrial

Microgastria-limb reduction defects

dehydrogenase deficiency

Male pseudohermaphroditism due to

respiratory chain deficiency Glycogenosis type 5

association RP10


Complex 5 mitochondrial

dehydrogenase deficiency

respiratory chain deficiency Glycogenosis type 6 MLRD

Congenital microgastria and limb


17 ketosteroidreductase deficiency complex brachydactyly Glycogenosis type 7

reduction defects RP12

2 Bruck syndrome Du Pan syndrome

Complex congenital heart

Glycogenosis type 8 Microgastria short stature diabetes RP25

defect renal agenesis and cleft Glycoprotein neuraminidase


lip and palate

renal agenesis and cleft lip and

palate Complex congenital

deficiency Microlissencephaly Chang-Davidson-Carlson syndrome

2 LEOPARD syndrome

heart defect NEUG deficiency Micromelic dwarfism Fryns type

metaphyseal dysplasia and

vertebral segmentation defects

Micromelic dwarfism with cone


2 Multiple epiphyseal dysplasia Holzgreve syndrome Neuraminidase deficiency


Micromelic dwarfism with cone


Complex malformation

epiphyses metaphyseal dysplasia

syndrome with

and vertebral segmentation

Multiple epiphyseal dysplasia 2 brachymesomelia Lipomucopolysaccharidosis defects RP7


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