Living with Pseudohypoparathyroidism type 1C
A genetic condition in which the body can't respond to parathyroid hormone, with low calcium and a round face.
Understanding Pseudohypoparathyroidism type 1C
It is very similar to hypoparathyroidism, where the hormone level itself is too low. It is also linked with a group of features called Albright's hereditary osteodystrophy. Unlike type 1A, people with type 1C don't have abnormal activity of the Gs alpha protein. GARD lists onset from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low calcium and high phosphate in the blood
- Short stature
- Round face
- Short fingers, toes, and foot bones
- Obesity
- Cataracts (clouding of the eye lens)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in GNAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
HypoPARAthyroidism Association, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: HypoPARAthyroidism Association, Inc.
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with HypoPARAthyroidism Association, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by a specific change in the GNAS gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: php ic; php1c; pseudohypoparathyroidism ic; pseudohypoparathyroidism, type ic
Patient organizations
- HypoPARAthyroidism Association, Inc.Pseudohypoparathyroidism type 1C · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudohypoparathyroidism type 1C.
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